chr1:146018399:G>T Detail (hg38) (HJV)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:145,416,614-145,416,614 View the variant detail on this assembly version. |
| hg38 | chr1:146,018,399-146,018,399 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001316767.1:c.959C>A | NP_001303696.1:p.Gly320Glu |
| NM_213653.3:c.959C>A | NP_998818.1:p.Gly320Glu | |
| NM_145277.4:c.620C>A | NP_660320.3:p.Gly207Glu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr1:146,018,399-146,018,399
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121392
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6475550283379465E-5
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