Linked Data
ClinVar Variation Id:
203461
dbSNP Id:
rs794729673
gnomAD v2:
7-2987283-C-T
gnomAD v4:
7-2947649-C-T
COSMIC:
COSM41654
PubMed:
PMID:25930198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2947649C>T , CM000669.2:g.2947649C>T | GRCh38 |
| NC_000007.13:g.2987283C>T , CM000669.1:g.2987283C>T | GRCh37 |
| NC_000007.12:g.2953809C>T | NCBI36 |
| NG_027759.1:g.101227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698637.1:n.472G>A | ||
| ENST00000698654.1:n.371G>A | ||
| ENST00000698662.1:n.346G>A | ||
| ENST00000396946.9:c.146G>A MANE Select | ENSP00000380150.4:p.Cys49Tyr | |
| ENST00000356408.3:c.146G>A | ENSP00000348779.3:p.Cys49Tyr | |
| ENST00000396946.8:c.146G>A | ENSP00000380150.4:p.Cys49Tyr | |
| NM_032415.5:c.146G>A | NP_115791.3:p.Cys49Tyr | |
| XM_011515585.1:c.146G>A | XP_011513887.1:p.Cys49Tyr | |
| XM_011515586.1:c.146G>A | XP_011513888.1:p.Cys49Tyr | |
| XM_011515587.1:c.146G>A | XP_011513889.1:p.Cys49Tyr | |
| NM_001324281.1:c.146G>A | NP_001311210.1:p.Cys49Tyr | |
| XM_011515586.2:c.146G>A | XP_011513888.1:p.Cys49Tyr | |
| XM_011515587.2:c.146G>A | XP_011513889.1:p.Cys49Tyr | |
| XR_001744885.1:n.545G>A | ||
| NM_001324281.2:c.146G>A | NP_001311210.1:p.Cys49Tyr | |
| NM_032415.6:c.146G>A | NP_115791.3:p.Cys49Tyr | |
| NM_001324281.3:c.146G>A | NP_001311210.1:p.Cys49Tyr | |
| NM_032415.7:c.146G>A MANE Select | NP_115791.3:p.Cys49Tyr |