Linked Data
ClinVar Variation Id:
335318
dbSNP Id:
rs138598929
ExAC:
2:242695322 A / G
gnomAD v2:
2-242695322-A-G
gnomAD v3:
2-241755907-A-G
gnomAD v4:
2-241755907-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241755907A>G , CM000664.2:g.241755907A>G | GRCh38 |
| NC_000002.11:g.242695322A>G , CM000664.1:g.242695322A>G | GRCh37 |
| NC_000002.10:g.242343995A>G | NCBI36 |
| NG_012012.1:g.26293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1199A>G MANE Select | ENSP00000315351.4:p.Tyr400Cys | |
| ENST00000321264.8:c.1199A>G | ENSP00000315351.4:p.Tyr400Cys | |
| ENST00000400769.6:c.912A>G | ENSP00000383580.2:p.Val304= | |
| ENST00000403782.5:c.797A>G | ENSP00000384723.1:p.Tyr266Cys | |
| ENST00000432449.1:c.459A>G | ||
| ENST00000436747.5:c.*2435A>G | ENSP00000400212.1:n.*2435A>G | |
| ENST00000445308.1:c.595A>G | ||
| ENST00000468064.5:n.1089A>G | ||
| ENST00000470343.5:n.680A>G | ||
| ENST00000473126.1:n.398A>G | ||
| ENST00000486953.5:n.1026A>G | ||
| ENST00000610344.1:c.*43A>G | ENSP00000481906.1:n.*43A>G | |
| NM_001287249.1:c.797A>G | NP_001274178.1:p.Tyr266Cys | |
| NM_152783.4:c.1199A>G | NP_689996.4:p.Tyr400Cys | |
| NR_109778.1:n.1121A>G | ||
| XM_011511734.1:c.1277A>G | XP_011510036.1:p.Tyr426Cys | |
| XM_011511735.1:c.1277A>G | XP_011510037.1:p.Tyr426Cys | |
| XM_011511736.1:c.1199A>G | XP_011510038.1:p.Tyr400Cys | |
| XM_011511737.1:c.1277A>G | XP_011510039.1:p.Tyr426Cys | |
| XM_011511742.1:c.*97A>G | XP_011510044.1:n.*97A>G | |
| XM_011511744.1:c.*38+4519A>G | XP_011510046.1:n.*38+4519A>G | |
| XM_011511748.1:c.*97A>G | XP_011510050.1:n.*97A>G | |
| XM_011511750.1:c.1218+4519A>G | XP_011510052.1:n.1218+4519A>G | |
| XM_011511754.1:c.716A>G | XP_011510056.1:p.Tyr239Cys | |
| XM_011511755.1:c.707A>G | XP_011510057.1:p.Tyr236Cys | |
| XM_011511756.1:c.853+11030A>G | XP_011510058.1:n.853+11030A>G | |
| XR_923004.1:n.1831A>G | ||
| XR_923007.1:n.1541A>G | ||
| XR_923011.1:n.1642A>G | ||
| XR_923014.1:n.1072A>G | ||
| NM_001352824.1:c.638A>G | NP_001339753.1:p.Tyr213Cys | |
| XM_011511734.2:c.1277A>G | XP_011510036.1:p.Tyr426Cys | |
| XM_011511735.2:c.1277A>G | XP_011510037.1:p.Tyr426Cys | |
| XM_011511736.2:c.1199A>G | XP_011510038.1:p.Tyr400Cys | |
| XM_011511737.3:c.1277A>G | XP_011510039.1:p.Tyr426Cys | |
| XM_011511744.2:c.*38+4519A>G | XP_011510046.1:n.*38+4519A>G | |
| XM_011511750.3:c.1218+4519A>G | XP_011510052.1:n.1218+4519A>G | |
| XM_011511756.2:c.853+11030A>G | XP_011510058.1:n.853+11030A>G | |
| XM_017004828.2:c.1199A>G | XP_016860317.1:p.Tyr400Cys | |
| XM_024453102.1:c.1049A>G | XP_024308870.1:p.Tyr350Cys | |
| XR_001738918.2:n.1573A>G | ||
| XR_001738919.2:n.1507A>G | ||
| XR_923004.3:n.1830A>G | ||
| XR_923007.3:n.1540A>G | ||
| XR_923011.3:n.1641A>G | ||
| XR_923014.3:n.1071A>G | ||
| NM_152783.5:c.1199A>G MANE Select | NP_689996.4:p.Tyr400Cys | |
| NM_001287249.2:c.797A>G | NP_001274178.1:p.Tyr266Cys | |
| NM_001352824.2:c.638A>G | NP_001339753.1:p.Tyr213Cys | |
| NR_109778.2:n.1070A>G |