Linked Data
ClinVar Variation Id:
3901
ClinVar RCV Id:
RCV000004107
dbSNP Id:
rs121907958
ExAC:
15:72638938 C / G
gnomAD v2:
15-72638938-C-G
gnomAD v3:
15-72346597-C-G
gnomAD v4:
15-72346597-C-G
PubMed:
PMID:2144098
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346597C>G , CM000677.2:g.72346597C>G | GRCh38 |
| NC_000015.9:g.72638938C>G , CM000677.1:g.72638938C>G | GRCh37 |
| NC_000015.8:g.70425992C>G | NCBI36 |
| NG_009017.1:g.34583G>C | |
| NG_009017.2:g.34583G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-272G>C | ENSP00000457521.2:n.1074-272G>C | |
| ENST00000682061.1:c.*922G>C | ENSP00000508316.1:n.*922G>C | |
| ENST00000682064.1:n.602G>C | ||
| ENST00000682177.1:c.1303G>C | ENSP00000507409.1:n.1303G>C | |
| ENST00000682235.1:n.599G>C | ||
| ENST00000682461.1:c.1366G>C | ENSP00000507308.1:n.1366G>C | |
| ENST00000682653.1:n.1580G>C | ||
| ENST00000682657.1:c.*484-272G>C | ENSP00000507753.1:n.*484-272G>C | |
| ENST00000682721.1:c.*1063G>C | ENSP00000507535.1:n.*1063G>C | |
| ENST00000682843.1:c.*972-272G>C | ENSP00000508173.1:n.*972-272G>C | |
| ENST00000683003.1:c.*484-272G>C | ENSP00000507576.1:n.*484-272G>C | |
| ENST00000683133.1:c.1444G>C | ENSP00000508108.1:n.1444G>C | |
| ENST00000683243.1:c.*484-272G>C | ENSP00000507042.1:n.*484-272G>C | |
| ENST00000683463.1:c.*65G>C | ENSP00000507986.1:n.*65G>C | |
| ENST00000683548.1:n.1105-272G>C | ||
| ENST00000683579.1:c.*1158G>C | ENSP00000506867.1:n.*1158G>C | |
| ENST00000683587.1:n.1178-272G>C | ||
| ENST00000683681.1:c.1260G>C | ENSP00000508110.1:p.Trp420Cys | |
| ENST00000683735.1:c.*1045-272G>C | ENSP00000508336.1:n.*1045-272G>C | |
| ENST00000683853.1:c.*65G>C | ENSP00000506834.1:n.*65G>C | |
| ENST00000683860.1:c.1260G>C | ENSP00000507179.1:p.Trp420Cys | |
| ENST00000683884.1:c.1147-272G>C | ENSP00000507004.1:n.1147-272G>C | |
| ENST00000684041.1:c.1260G>C | ENSP00000508382.1:p.Trp420Cys | |
| ENST00000684125.1:c.1074-272G>C | ENSP00000507320.1:n.1074-272G>C | |
| ENST00000684203.1:n.3025G>C | ||
| ENST00000684231.1:c.*670G>C | ENSP00000507748.1:n.*670G>C | |
| ENST00000684263.1:c.*200G>C | ENSP00000508369.1:n.*200G>C | |
| ENST00000684305.1:c.1708G>C | ENSP00000506819.1:n.1708G>C | |
| ENST00000684415.1:c.*127G>C | ENSP00000507227.1:n.*127G>C | |
| ENST00000684520.1:c.1260G>C | ENSP00000506826.1:p.Trp420Cys | |
| ENST00000684602.1:c.*926G>C | ENSP00000507996.1:n.*926G>C | |
| ENST00000684667.1:c.1591G>C | ENSP00000507003.1:n.1591G>C | |
| ENST00000268097.10:c.1260G>C MANE Select | ENSP00000268097.6:p.Trp420Cys | |
| ENST00000268097.9:c.1260G>C | ENSP00000268097.5:p.Trp420Cys | |
| ENST00000379915.4:c.413-272G>C | ENSP00000478716.1:n.413-272G>C | |
| ENST00000563762.5:c.826-272G>C | ENSP00000456346.1:n.826-272G>C | |
| ENST00000566304.5:c.1293G>C | ENSP00000455114.1:p.Trp431Cys | |
| ENST00000566672.5:c.*670G>C | ENSP00000457037.1:n.*670G>C | |
| ENST00000567027.5:c.946-272G>C | ||
| ENST00000567159.5:c.1260G>C | ENSP00000456489.1:p.Trp420Cys | |
| ENST00000567411.5:c.*781G>C | ENSP00000455545.1:n.*781G>C | |
| ENST00000568777.5:n.6551-272G>C | ||
| ENST00000569410.5:c.*65G>C | ENSP00000457125.1:n.*65G>C | |
| NM_000520.4:c.1260G>C | NP_000511.2:p.Trp420Cys | |
| NM_000520.5:c.1260G>C | NP_000511.2:p.Trp420Cys | |
| NM_001318825.1:c.1293G>C | NP_001305754.1:p.Trp431Cys | |
| NR_134869.1:n.1575-272G>C | ||
| NM_000520.6:c.1260G>C MANE Select | NP_000511.2:p.Trp420Cys | |
| NM_001318825.2:c.1293G>C | NP_001305754.1:p.Trp431Cys | |
| NR_134869.2:n.1116-272G>C | ||
| NR_134869.3:n.1116-272G>C |