Linked Data
ClinVar Variation Id:
1371
dbSNP Id:
rs137853107
gnomAD v2:
8-94803510-A-G
gnomAD v4:
8-93791282-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93791282A>G , CM000670.2:g.93791282A>G | GRCh38 |
| NC_000008.10:g.94803510A>G , CM000670.1:g.94803510A>G | GRCh37 |
| NC_000008.9:g.94872686A>G | NCBI36 |
| NG_009190.1:g.41439A>G , LRG_688:g.41439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1538A>G | ENSP00000314488.4:p.Tyr513Cys | |
| ENST00000409623.8:c.1493A>G | ENSP00000386966.4:p.Tyr498Cys | |
| ENST00000452276.6:c.1538A>G | ENSP00000388671.2:p.Tyr513Cys | |
| ENST00000453906.6:c.656A>G | ENSP00000403035.2:p.Tyr219Cys | |
| ENST00000520680.2:c.1538A>G | ENSP00000428785.2:p.Tyr513Cys | |
| ENST00000521517.6:c.1538A>G | ENSP00000430740.2:p.Tyr513Cys | |
| ENST00000681998.1:c.1359A>G | ENSP00000506773.1:n.1359A>G | |
| ENST00000682036.1:c.656A>G | ENSP00000508390.1:p.Tyr219Cys | |
| ENST00000682577.1:c.1311A>G | ENSP00000506963.1:n.1311A>G | |
| ENST00000682624.1:c.*1112A>G | ENSP00000508343.1:n.*1112A>G | |
| ENST00000682700.1:c.1538A>G | ENSP00000507627.1:p.Tyr513Cys | |
| ENST00000682744.1:n.1076A>G | ||
| ENST00000682804.1:n.1361A>G | ||
| ENST00000682837.1:c.1027A>G | ENSP00000507920.1:n.1027A>G | |
| ENST00000682935.1:n.3588A>G | ||
| ENST00000682984.1:c.1199A>G | ENSP00000507209.1:p.Tyr400Cys | |
| ENST00000683078.1:c.1293A>G | ENSP00000506796.1:n.1293A>G | |
| ENST00000683223.1:c.1270A>G | ENSP00000507685.1:n.1270A>G | |
| ENST00000683238.1:n.2762A>G | ||
| ENST00000683249.1:n.3135A>G | ||
| ENST00000683336.1:c.1359A>G | ENSP00000507695.1:n.1359A>G | |
| ENST00000683362.1:c.1199A>G | ENSP00000506985.1:p.Tyr400Cys | |
| ENST00000683850.1:n.1461A>G | ||
| ENST00000683919.1:c.1468A>G | ENSP00000507617.1:n.1468A>G | |
| ENST00000683953.1:c.1449A>G | ENSP00000508375.1:n.1449A>G | |
| ENST00000684023.1:c.1515A>G | ENSP00000507461.1:n.1515A>G | |
| ENST00000684064.1:c.1229A>G | ENSP00000508192.1:p.Tyr410Cys | |
| ENST00000684089.1:n.3088A>G | ||
| ENST00000684149.1:c.*717A>G | ENSP00000507943.1:n.*717A>G | |
| ENST00000684416.1:n.1497A>G | ||
| ENST00000684540.1:c.1468A>G | ENSP00000507987.1:n.1468A>G | |
| ENST00000453321.8:c.1538A>G MANE Select | ENSP00000389998.3:p.Tyr513Cys | |
| ENST00000323130.7:c.1508A>G | ENSP00000314488.3:p.Tyr503Cys | |
| ENST00000409623.7:c.1295A>G | ENSP00000386966.3:p.Tyr432Cys | |
| ENST00000453321.7:c.1538A>G | ENSP00000389998.3:p.Tyr513Cys | |
| ENST00000474944.5:n.676A>G | ||
| ENST00000520680.1:c.360A>G | ||
| ENST00000523230.5:n.73A>G | ||
| NM_001142301.1:c.1295A>G , LRG_688t2:c.1295A>G | NP_001135773.1:p.Tyr432Cys | |
| NM_153704.5:c.1538A>G , LRG_688t1:c.1538A>G | NP_714915.3:p.Tyr513Cys | |
| NR_024522.1:n.1609A>G | ||
| XM_006716686.2:c.1235A>G | XP_006716749.1:p.Tyr412Cys | |
| XM_006716687.2:c.938A>G | XP_006716750.1:p.Tyr313Cys | |
| XM_011517363.1:c.656A>G | XP_011515665.1:p.Tyr219Cys | |
| XR_428387.1:n.1596A>G | ||
| XR_928360.1:n.1596A>G | ||
| XR_928361.1:n.1596A>G | ||
| XR_928362.1:n.1596A>G | ||
| XM_006716686.4:c.1235A>G | XP_006716749.1:p.Tyr412Cys | |
| XM_011517363.3:c.656A>G | XP_011515665.1:p.Tyr219Cys | |
| XM_024447326.1:c.884A>G | XP_024303094.1:p.Tyr295Cys | |
| XR_001745619.2:n.1579A>G | ||
| XR_428387.2:n.1579A>G | ||
| XR_928360.3:n.1579A>G | ||
| XR_928362.3:n.1579A>G | ||
| NM_153704.6:c.1538A>G MANE Select | NP_714915.3:p.Tyr513Cys | |
| NR_024522.2:n.1559A>G |