Linked Data
ClinVar Variation Id:
2265712
ClinVar RCV Id:
RCV002793358
dbSNP Id:
rs201312889
ExAC:
19:51411682 T / C
gnomAD v2:
19-51411682-T-C
gnomAD v3:
19-50908426-T-C
gnomAD v4:
19-50908426-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908426T>C , CM000681.2:g.50908426T>C | GRCh38 |
| NC_000019.9:g.51411682T>C , CM000681.1:g.51411682T>C | GRCh37 |
| NC_000019.8:g.56103494T>C | NCBI36 |
| NG_012154.2:g.7313A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.545A>G MANE Select | ENSP00000326159.1:p.Tyr182Cys | |
| ENST00000324041.5:c.545A>G | ENSP00000326159.1:p.Tyr182Cys | |
| ENST00000431178.2:c.328+153A>G | ENSP00000399448.2:n.328+153A>G | |
| ENST00000593885.1:c.*40A>G | ENSP00000469769.1:n.*40A>G | |
| ENST00000596876.1:n.547A>G | ||
| ENST00000598305.5:c.*40A>G | ENSP00000469963.1:n.*40A>G | |
| ENST00000599865.5:n.481A>G | ||
| ENST00000602148.1:c.557A>G | ENSP00000472091.1:n.557A>G | |
| NM_001302961.1:c.260A>G | NP_001289890.1:p.Tyr87Cys | |
| NM_004917.4:c.545A>G | NP_004908.4:p.Tyr182Cys | |
| NR_126566.1:n.534A>G | ||
| XM_005259441.3:c.260A>G | XP_005259498.2:p.Tyr87Cys | |
| XM_011527545.1:c.*40A>G | XP_011525847.1:n.*40A>G | |
| XM_011527546.1:c.475+153A>G | XP_011525848.1:n.475+153A>G | |
| XM_011527547.1:c.398A>G | XP_011525849.1:p.Tyr133Cys | |
| XM_005259441.4:c.260A>G | XP_005259498.2:p.Tyr87Cys | |
| XM_011527545.3:c.*40A>G | XP_011525847.1:n.*40A>G | |
| XM_011527546.2:c.475+153A>G | XP_011525848.1:n.475+153A>G | |
| NM_001302961.2:c.260A>G | NP_001289890.1:p.Tyr87Cys | |
| NR_126566.2:n.534A>G | ||
| NM_004917.5:c.545A>G MANE Select | NP_004908.4:p.Tyr182Cys |