Linked Data
ClinVar Variation Id:
856405
dbSNP Id:
rs145464516
ExAC:
9:134394297 A / G
gnomAD v2:
9-134394297-A-G
gnomAD v3:
9-131518910-A-G
gnomAD v4:
9-131518910-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518910A>G , CM000671.2:g.131518910A>G | GRCh38 |
| NC_000009.11:g.134394297A>G , CM000671.1:g.134394297A>G | GRCh37 |
| NC_000009.10:g.133384118A>G | NCBI36 |
| NG_008896.1:g.21009A>G | |
| NG_008896.2:g.21009A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1277A>G | ENSP00000343034.7:p.Tyr426Cys | |
| ENST00000404875.7:n.1979A>G | ||
| ENST00000423007.6:c.1496A>G | ENSP00000404119.2:p.Tyr499Cys | |
| ENST00000677295.2:c.*1783A>G | ENSP00000504346.2:n.*1783A>G | |
| ENST00000678264.2:c.*1622A>G | ENSP00000503157.2:n.*1622A>G | |
| ENST00000682070.1:n.1904A>G | ||
| ENST00000682539.1:c.377A>G | ||
| ENST00000682813.1:n.1843A>G | ||
| ENST00000683392.1:n.4186A>G | ||
| ENST00000683712.1:n.1844A>G | ||
| ENST00000683900.1:n.3339A>G | ||
| ENST00000684062.1:n.2105A>G | ||
| ENST00000684579.1:n.3285A>G | ||
| ENST00000684679.1:n.666A>G | ||
| ENST00000341012.12:c.1277A>G | ENSP00000343034.7:p.Tyr426Cys | |
| ENST00000372220.5:c.308A>G | ENSP00000361294.5:p.Tyr103Cys | |
| ENST00000372228.9:c.1505A>G | ENSP00000361302.3:p.Tyr502Cys | |
| ENST00000402686.8:c.1439A>G MANE Select | ENSP00000385797.4:p.Tyr480Cys | |
| ENST00000676640.1:c.1439A>G | ENSP00000503281.1:p.Tyr480Cys | |
| ENST00000676803.1:c.614A>G | ENSP00000503093.1:p.Tyr205Cys | |
| ENST00000676835.1:c.*654A>G | ENSP00000502911.1:n.*654A>G | |
| ENST00000677029.1:c.983A>G | ENSP00000502936.1:p.Tyr328Cys | |
| ENST00000677099.1:c.*1149A>G | ENSP00000504553.1:n.*1149A>G | |
| ENST00000677216.1:c.1088A>G | ENSP00000503772.1:p.Tyr363Cys | |
| ENST00000677221.1:n.464A>G | ||
| ENST00000677295.1:c.*816A>G | ENSP00000504346.1:n.*816A>G | |
| ENST00000677444.1:c.1384A>G | ||
| ENST00000677586.1:n.920A>G | ||
| ENST00000677626.1:c.1088A>G | ENSP00000503552.1:p.Tyr363Cys | |
| ENST00000677677.1:n.1399A>G | ||
| ENST00000677853.1:c.*447A>G | ENSP00000503488.1:n.*447A>G | |
| ENST00000678202.1:n.598A>G | ||
| ENST00000678264.1:c.*816A>G | ENSP00000503157.1:n.*816A>G | |
| ENST00000678303.1:c.1349A>G | ENSP00000503696.1:p.Tyr450Cys | |
| ENST00000678366.1:c.*1688A>G | ENSP00000504353.1:n.*1688A>G | |
| ENST00000678546.1:c.*1384A>G | ENSP00000503062.1:n.*1384A>G | |
| ENST00000678548.1:c.*1511A>G | ENSP00000503934.1:n.*1511A>G | |
| ENST00000678626.1:n.1275A>G | ||
| ENST00000678733.1:c.520A>G | ||
| ENST00000678739.1:c.*1765A>G | ENSP00000503806.1:n.*1765A>G | |
| ENST00000678833.1:c.*886A>G | ENSP00000503893.1:n.*886A>G | |
| ENST00000679023.1:c.1277A>G | ENSP00000503718.1:p.Tyr426Cys | |
| ENST00000679076.1:c.1058A>G | ||
| ENST00000679111.1:c.*195A>G | ENSP00000504257.1:n.*195A>G | |
| ENST00000679189.1:c.1088A>G | ENSP00000503356.1:p.Tyr363Cys | |
| ENST00000341012.11:c.1277A>G | ENSP00000343034.7:p.Tyr426Cys | |
| ENST00000372220.4:c.302A>G | ENSP00000361294.4:p.Tyr101Cys | |
| ENST00000372228.7:c.1505A>G | ENSP00000361302.3:p.Tyr502Cys | |
| ENST00000402686.7:c.1439A>G | ENSP00000385797.3:p.Tyr480Cys | |
| ENST00000404875.6:c.1088A>G | ENSP00000384531.2:p.Tyr363Cys | |
| ENST00000423007.5:c.1439A>G | ENSP00000404119.1:p.Tyr480Cys | |
| ENST00000467848.1:n.143A>G | ||
| ENST00000485278.5:n.1994A>G | ||
| NM_001077365.1:c.1439A>G | NP_001070833.1:p.Tyr480Cys | |
| NM_001077366.1:c.1277A>G | NP_001070834.1:p.Tyr426Cys | |
| NM_001136113.1:c.1439A>G | NP_001129585.1:p.Tyr480Cys | |
| NM_001136114.1:c.1088A>G | NP_001129586.1:p.Tyr363Cys | |
| NM_007171.3:c.1505A>G | NP_009102.3:p.Tyr502Cys | |
| XM_005272156.1:c.1505A>G | XP_005272213.1:p.Tyr502Cys | |
| XM_005272158.1:c.1343A>G | XP_005272215.1:p.Tyr448Cys | |
| XM_005272159.1:c.1154A>G | XP_005272216.1:p.Tyr385Cys | |
| XM_005272162.1:c.308A>G | XP_005272219.1:p.Tyr103Cys | |
| XM_006716932.1:c.1154A>G | XP_006716995.1:p.Tyr385Cys | |
| XM_011518140.1:c.1358A>G | XP_011516442.1:p.Tyr453Cys | |
| XM_011518141.1:c.1292A>G | XP_011516443.1:p.Tyr431Cys | |
| XM_011518142.1:c.1196A>G | XP_011516444.1:p.Tyr399Cys | |
| XM_011518143.1:c.1190A>G | XP_011516445.1:p.Tyr397Cys | |
| XM_011518145.1:c.1049A>G | XP_011516447.1:p.Tyr350Cys | |
| XM_011518147.1:c.377A>G | XP_011516449.1:p.Tyr126Cys | |
| XR_929703.1:n.1681A>G | ||
| NM_001353193.1:c.1505A>G | NP_001340122.1:p.Tyr502Cys | |
| NM_001353194.1:c.1277A>G | NP_001340123.1:p.Tyr426Cys | |
| NM_001353195.1:c.1088A>G | NP_001340124.1:p.Tyr363Cys | |
| NM_001353196.1:c.1349A>G | NP_001340125.1:p.Tyr450Cys | |
| NM_001353197.1:c.1343A>G | NP_001340126.1:p.Tyr448Cys | |
| NM_001353198.1:c.1343A>G | NP_001340127.1:p.Tyr448Cys | |
| NM_001353199.1:c.1154A>G | NP_001340128.1:p.Tyr385Cys | |
| NM_001353200.1:c.983A>G | NP_001340129.1:p.Tyr328Cys | |
| NR_148391.1:n.1489A>G | ||
| NR_148392.1:n.1707A>G | ||
| NR_148393.1:n.1628A>G | ||
| NR_148394.1:n.1382A>G | ||
| NR_148395.1:n.1780A>G | ||
| NR_148396.1:n.1414A>G | ||
| NR_148397.1:n.1539A>G | ||
| NR_148398.1:n.1494A>G | ||
| NR_148399.1:n.2020A>G | ||
| NR_148400.1:n.1619A>G | ||
| XM_005272162.3:c.308A>G | XP_005272219.1:p.Tyr103Cys | |
| XM_006716932.2:c.1154A>G | XP_006716995.1:p.Tyr385Cys | |
| XM_011518140.2:c.1358A>G | XP_011516442.1:p.Tyr453Cys | |
| XM_011518141.2:c.1292A>G | XP_011516443.1:p.Tyr431Cys | |
| XM_011518142.2:c.1196A>G | XP_011516444.1:p.Tyr399Cys | |
| XM_011518143.2:c.1190A>G | XP_011516445.1:p.Tyr397Cys | |
| XM_011518145.2:c.1049A>G | XP_011516447.1:p.Tyr350Cys | |
| XM_017014205.2:c.308A>G | XP_016869694.1:p.Tyr103Cys | |
| XM_024447380.1:c.308A>G | XP_024303148.1:p.Tyr103Cys | |
| XM_024447381.1:c.614A>G | XP_024303149.1:p.Tyr205Cys | |
| XM_024447382.1:c.308A>G | XP_024303150.1:p.Tyr103Cys | |
| XR_001746160.2:n.1609A>G | ||
| XR_001746162.2:n.1814A>G | ||
| XR_001746164.1:n.1531A>G | ||
| XR_001746166.2:n.1826A>G | ||
| NM_001077365.2:c.1439A>G MANE Select | NP_001070833.1:p.Tyr480Cys | |
| NM_001077366.2:c.1277A>G | NP_001070834.1:p.Tyr426Cys | |
| NM_001136113.2:c.1439A>G | NP_001129585.1:p.Tyr480Cys | |
| NM_001136114.2:c.1088A>G | NP_001129586.1:p.Tyr363Cys | |
| NM_001353193.2:c.1505A>G | NP_001340122.2:p.Tyr502Cys | |
| NM_001353194.2:c.1277A>G | NP_001340123.1:p.Tyr426Cys | |
| NM_001353195.2:c.1088A>G | NP_001340124.1:p.Tyr363Cys | |
| NM_001353196.2:c.1349A>G | NP_001340125.1:p.Tyr450Cys | |
| NM_001353197.2:c.1343A>G | NP_001340126.2:p.Tyr448Cys | |
| NM_001353198.2:c.1343A>G | NP_001340127.2:p.Tyr448Cys | |
| NM_001353199.2:c.1154A>G | NP_001340128.2:p.Tyr385Cys | |
| NM_001353200.2:c.983A>G | NP_001340129.1:p.Tyr328Cys | |
| NM_001374689.1:c.1427A>G | NP_001361618.1:p.Tyr476Cys | |
| NM_001374690.1:c.1365+373A>G | NP_001361619.1:n.1365+373A>G | |
| NM_001374691.1:c.1088A>G | NP_001361620.1:p.Tyr363Cys | |
| NM_001374692.1:c.1088A>G | NP_001361621.1:p.Tyr363Cys | |
| NM_001374693.1:c.1088A>G | NP_001361622.1:p.Tyr363Cys | |
| NM_001374695.1:c.1049A>G | NP_001361624.1:p.Tyr350Cys | |
| NM_007171.4:c.1505A>G | NP_009102.4:p.Tyr502Cys | |
| NR_148391.2:n.1473A>G | ||
| NR_148392.2:n.1691A>G | ||
| NR_148393.2:n.1612A>G | ||
| NR_148394.2:n.1366A>G | ||
| NR_148395.2:n.1764A>G | ||
| NR_148396.2:n.1398A>G | ||
| NR_148397.2:n.1523A>G | ||
| NR_148398.2:n.1478A>G | ||
| NR_148399.2:n.2004A>G | ||
| NR_148400.2:n.1603A>G |