Linked Data
ClinVar Variation Id:
6307
ClinVar RCV Id:
RCV000006687
dbSNP Id:
rs121908654
gnomAD v4:
19-57234985-G-A
PubMed:
PMID:19147683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57234985G>A , CM000681.2:g.57234985G>A | GRCh38 |
| NC_000019.9:g.57746353G>A , CM000681.1:g.57746353G>A | GRCh37 |
| NC_000019.8:g.62438165G>A | NCBI36 |
| NG_012134.1:g.8977G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302804.12:c.686G>A MANE Select | ENSP00000302898.6:p.Cys229Tyr | |
| ENST00000302804.11:c.686G>A | ENSP00000302898.6:p.Cys229Tyr | |
| ENST00000415300.6:c.629G>A | ENSP00000407162.1:p.Cys210Tyr | |
| ENST00000448930.5:c.581G>A | ENSP00000406798.2:p.Cys194Tyr | |
| ENST00000594599.1:c.170G>A | ENSP00000469894.1:p.Cys57Tyr | |
| ENST00000596375.1:c.*247G>A | ENSP00000470465.1:n.*247G>A | |
| ENST00000598785.5:c.584G>A | ENSP00000471830.1:p.Cys195Tyr | |
| ENST00000599062.5:c.677G>A | ENSP00000469983.1:p.Cys226Tyr | |
| ENST00000601799.5:c.*985G>A | ENSP00000468918.1:n.*985G>A | |
| NM_001015878.1:c.686G>A | NP_001015878.1:p.Cys229Tyr | |
| NM_001015879.1:c.629G>A | NP_001015879.1:p.Cys210Tyr | |
| NM_003160.2:c.584G>A | NP_003151.2:p.Cys195Tyr | |
| XR_430209.2:n.1580G>A | ||
| XR_430209.3:n.1623G>A | ||
| NM_001015878.2:c.686G>A MANE Select | NP_001015878.1:p.Cys229Tyr | |
| NM_001015879.2:c.629G>A | NP_001015879.1:p.Cys210Tyr | |
| NM_003160.3:c.584G>A | NP_003151.2:p.Cys195Tyr |