chr11:5226612:A>G Detail (hg38) (HBB, LOC106099062, LOC107133510, LOC110006319)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:5,247,842-5,247,842 View the variant detail on this assembly version. |
hg38 | chr11:5,226,612-5,226,612 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000518.4:c.280T>C | NP_000509.1:p.Cys94Arg |
Ensemble | ENST00000335295.4:c.280T>C | ENST00000335295.4:p.Cys94Arg |
ENST00000485743.1:c.280T>C | ENST00000485743.1:p.Cys94Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000518.5(HBB):c.280T>C (p.Cys94Arg) AND HEMOGLOBIN OKAZAKI | ClinVar | Detail |
NM_000518.4(HBB):c.[280T>C;364G>C] AND HEMOGLOBIN CLEVELAND | 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
- rs33972927 dbSNP
- Genome
- hg38
- Position
- chr11:5,226,612-5,226,612
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser