chr11:5225614:G>A Detail (hg38) (HBB, LOC106099062, LOC107133510, LOC110006319)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:5,246,844-5,246,844 View the variant detail on this assembly version. |
| hg38 | chr11:5,225,614-5,225,614 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000518.4:c.428C>T | NP_000509.1:p.Ala143Val |
| Ensemble | ENST00000647020.1:c.428C>T | ENST00000647020.1:p.Ala143Val |
| ENST00000335295.4:c.428C>T | ENST00000335295.4:p.Ala143Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | no classification for the single variant |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1992-01-01 | no assertion criteria provided | HEMOGLOBIN S (TRAVIS) |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000518.4(HBB):c.[20A>T;428C>T] AND HEMOGLOBIN S (TRAVIS) | ClinVar | Detail |
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
- -
- dbSNP
- rs33921821 dbSNP
- Genome
- hg38
- Position
- chr11:5,225,614-5,225,614
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser