Linked Data
ClinVar Variation Id:
2940254
ClinVar RCV Id:
RCV003797612
dbSNP Id:
rs762317370
ExAC:
10:121431795 G / A
gnomAD v2:
10-121431795-G-A
gnomAD v4:
10-119672283-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672283G>A , CM000672.2:g.119672283G>A | GRCh38 |
| NC_000010.10:g.121431795G>A , CM000672.1:g.121431795G>A | GRCh37 |
| NC_000010.9:g.121421785G>A | NCBI36 |
| NG_016125.1:g.25914G>A , LRG_742:g.25914G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.536G>A MANE Select | ENSP00000358081.4:p.Cys179Tyr | |
| ENST00000369085.7:c.536G>A | ENSP00000358081.3:p.Cys179Tyr | |
| ENST00000450186.1:c.362G>A | ENSP00000410036.1:p.Cys121Tyr | |
| NM_004281.3:c.536G>A , LRG_742t1:c.536G>A | NP_004272.2:p.Cys179Tyr | |
| XM_005270287.1:c.536G>A | XP_005270344.1:p.Cys179Tyr | |
| XM_005270287.2:c.536G>A | XP_005270344.1:p.Cys179Tyr | |
| NM_004281.4:c.536G>A MANE Select | NP_004272.2:p.Cys179Tyr |