Linked Data
ClinVar Variation Id:
13188
ClinVar RCV Id:
RCV000014076
dbSNP Id:
rs28935769
gnomAD v4:
3-58430851-T-C
PubMed:
PMID:15138885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58430851T>C , CM000665.2:g.58430851T>C | GRCh38 |
| NC_000003.11:g.58416578T>C , CM000665.1:g.58416578T>C | GRCh37 |
| NC_000003.10:g.58391618T>C | NCBI36 |
| NG_016860.1:g.8002A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302746.11:c.395A>G MANE Select | ENSP00000307241.6:p.Tyr132Cys | |
| ENST00000302746.10:c.395A>G | ENSP00000307241.6:p.Tyr132Cys | |
| ENST00000383714.8:c.341A>G | ENSP00000373220.4:p.Tyr114Cys | |
| ENST00000461692.5:n.508A>G | ||
| ENST00000469364.5:c.395A>G | ENSP00000419580.1:p.Tyr132Cys | |
| ENST00000474765.1:c.341A>G | ENSP00000418448.1:p.Tyr114Cys | |
| ENST00000479945.1:n.2800A>G | ||
| ENST00000480626.5:n.487A>G | ||
| ENST00000485460.5:c.395A>G | ENSP00000417267.1:p.Tyr132Cys | |
| NM_000925.3:c.395A>G | NP_000916.2:p.Tyr132Cys | |
| NM_001173468.1:c.395A>G | NP_001166939.1:p.Tyr132Cys | |
| NM_001315536.1:c.341A>G | NP_001302465.1:p.Tyr114Cys | |
| NR_033384.1:n.508A>G | ||
| NM_000925.4:c.395A>G MANE Select | NP_000916.2:p.Tyr132Cys | |
| NM_001173468.2:c.395A>G | NP_001166939.1:p.Tyr132Cys | |
| NM_001315536.2:c.341A>G | NP_001302465.1:p.Tyr114Cys | |
| NR_033384.2:n.501A>G |