Linked Data
ClinVar Variation Id:
456259
dbSNP Id:
rs200173413
ExAC:
14:45644287 A / G
gnomAD v2:
14-45644287-A-G
gnomAD v3:
14-45175084-A-G
gnomAD v4:
14-45175084-A-G
COSMIC:
COSM6056954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45175084A>G , CM000676.2:g.45175084A>G | GRCh38 |
| NC_000014.8:g.45644287A>G , CM000676.1:g.45644287A>G | GRCh37 |
| NC_000014.7:g.44714037A>G | NCBI36 |
| NG_007417.1:g.44152A>G , LRG_502:g.44152A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.542A>G | ENSP00000450632.2:p.Tyr181Cys | |
| ENST00000556250.6:c.2123A>G | ENSP00000452033.2:p.Tyr708Cys | |
| ENST00000696641.1:c.2171A>G | ENSP00000512774.1:p.Tyr724Cys | |
| ENST00000696642.1:c.*1141A>G | ENSP00000512775.1:n.*1141A>G | |
| ENST00000696646.1:c.*1141A>G | ENSP00000512777.1:n.*1141A>G | |
| ENST00000696647.1:c.2330A>G | ENSP00000512778.1:p.Tyr777Cys | |
| ENST00000696648.1:c.*355A>G | ENSP00000512779.1:n.*355A>G | |
| ENST00000696649.1:c.2174A>G | ENSP00000512780.1:p.Tyr725Cys | |
| ENST00000696650.1:n.2278A>G | ||
| ENST00000696658.1:n.2880A>G | ||
| ENST00000696659.1:c.328A>G | ||
| ENST00000696663.1:c.1147A>G | ||
| ENST00000696664.1:c.1147A>G | ||
| ENST00000696675.1:c.2330A>G | ENSP00000512799.1:p.Tyr777Cys | |
| ENST00000696683.1:c.1147A>G | ||
| ENST00000696684.1:c.1147A>G | ||
| ENST00000696685.1:c.1147A>G | ||
| ENST00000267430.10:c.2330A>G MANE Select | ENSP00000267430.5:p.Tyr777Cys | |
| ENST00000267430.9:c.2330A>G | ENSP00000267430.5:p.Tyr777Cys | |
| ENST00000542564.6:c.2252A>G | ENSP00000442493.2:p.Tyr751Cys | |
| ENST00000556250.5:c.878A>G | ENSP00000452033.1:p.Tyr293Cys | |
| NM_001308133.1:c.2252A>G | NP_001295062.1:p.Tyr751Cys | |
| NM_020937.2:c.2330A>G , LRG_502t1:c.2330A>G | NP_065988.1:p.Tyr777Cys | |
| NM_020937.3:c.2330A>G | NP_065988.1:p.Tyr777Cys | |
| XM_011537034.1:c.2330A>G | XP_011535336.1:p.Tyr777Cys | |
| XM_011537035.1:c.2252A>G | XP_011535337.1:p.Tyr751Cys | |
| XM_011537036.1:c.2330A>G | XP_011535338.1:p.Tyr777Cys | |
| XM_011537037.1:c.344A>G | XP_011535339.1:p.Tyr115Cys | |
| XM_011537034.2:c.2330A>G | XP_011535336.1:p.Tyr777Cys | |
| XM_011537035.3:c.2252A>G | XP_011535337.1:p.Tyr751Cys | |
| XM_011537037.3:c.344A>G | XP_011535339.1:p.Tyr115Cys | |
| XM_017021523.1:c.2330A>G | XP_016877012.1:p.Tyr777Cys | |
| XM_017021524.2:c.1367A>G | XP_016877013.1:p.Tyr456Cys | |
| XM_017021525.2:c.1145A>G | XP_016877014.1:p.Tyr382Cys | |
| XM_017021526.2:c.1145A>G | XP_016877015.1:p.Tyr382Cys | |
| XM_017021527.1:c.1145A>G | XP_016877016.1:p.Tyr382Cys | |
| XR_001750470.1:n.2422A>G | ||
| XR_001750471.2:n.2422A>G | ||
| XR_001750472.1:n.2422A>G | ||
| NM_020937.4:c.2330A>G MANE Select | NP_065988.1:p.Tyr777Cys | |
| NM_001308133.2:c.2252A>G | NP_001295062.1:p.Tyr751Cys |