Linked Data
ClinVar Variation Id:
306211
dbSNP Id:
rs777557874
ExAC:
11:77812131 T / C
gnomAD v2:
11-77812131-T-C
gnomAD v3:
11-78101085-T-C
gnomAD v4:
11-78101085-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78101085T>C , CM000673.2:g.78101085T>C | GRCh38 |
| NC_000011.9:g.77812131T>C , CM000673.1:g.77812131T>C | GRCh37 |
| NC_000011.8:g.77489779T>C | NCBI36 |
| NG_008926.1:g.43569A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299626.10:c.1460A>G MANE Select | ENSP00000299626.5:p.Tyr487Cys | |
| ENST00000524925.2:n.1538A>G | ||
| ENST00000525761.3:c.1196A>G | ENSP00000431357.3:p.Tyr399Cys | |
| ENST00000525783.6:c.1196A>G | ENSP00000434066.2:p.Tyr399Cys | |
| ENST00000525870.6:c.1149A>G | ENSP00000435417.2:n.1149A>G | |
| ENST00000526737.6:c.*991A>G | ENSP00000436366.2:n.*991A>G | |
| ENST00000526849.6:c.1364A>G | ENSP00000434388.2:p.Tyr455Cys | |
| ENST00000527099.2:c.1196A>G | ENSP00000436064.2:p.Tyr399Cys | |
| ENST00000529139.6:c.1286A>G | ENSP00000432953.2:p.Tyr429Cys | |
| ENST00000530608.6:c.1259A>G | ENSP00000432381.2:p.Tyr420Cys | |
| ENST00000530910.6:c.1196A>G | ENSP00000437033.2:p.Tyr399Cys | |
| ENST00000532306.6:c.1199A>G | ENSP00000435626.2:p.Tyr400Cys | |
| ENST00000532440.6:c.1508A>G | ENSP00000433429.2:p.Tyr503Cys | |
| ENST00000615266.5:c.*4A>G | ENSP00000480742.2:n.*4A>G | |
| ENST00000679444.1:c.1196A>G | ENSP00000506099.1:p.Tyr399Cys | |
| ENST00000679497.1:c.1196A>G | ENSP00000505407.1:p.Tyr399Cys | |
| ENST00000679539.1:c.*171A>G | ENSP00000504910.1:n.*171A>G | |
| ENST00000679559.1:c.1452+8A>G | ENSP00000505433.1:n.1452+8A>G | |
| ENST00000679581.1:n.2162A>G | ||
| ENST00000679648.1:c.*1066A>G | ENSP00000505726.1:n.*1066A>G | |
| ENST00000679685.1:c.*810A>G | ENSP00000505698.1:n.*810A>G | |
| ENST00000679697.1:c.*238A>G | ENSP00000505696.1:n.*238A>G | |
| ENST00000679874.1:c.*957A>G | ENSP00000506314.1:n.*957A>G | |
| ENST00000679986.1:c.*991A>G | ENSP00000505614.1:n.*991A>G | |
| ENST00000680063.1:c.*991A>G | ENSP00000504928.1:n.*991A>G | |
| ENST00000680101.1:c.*131A>G | ENSP00000504917.1:n.*131A>G | |
| ENST00000680142.1:n.1292A>G | ||
| ENST00000680223.1:c.*343A>G | ENSP00000505023.1:n.*343A>G | |
| ENST00000680256.1:c.1463A>G | ENSP00000505074.1:p.Tyr488Cys | |
| ENST00000680329.1:c.1196A>G | ENSP00000506215.1:p.Tyr399Cys | |
| ENST00000680398.1:c.1452+8A>G | ENSP00000506189.1:n.1452+8A>G | |
| ENST00000680399.1:c.*131A>G | ENSP00000505984.1:n.*131A>G | |
| ENST00000680459.1:c.*1083A>G | ENSP00000506617.1:n.*1083A>G | |
| ENST00000680467.1:c.*396A>G | ENSP00000505609.1:n.*396A>G | |
| ENST00000680499.1:c.*131A>G | ENSP00000506092.1:n.*131A>G | |
| ENST00000680580.1:c.1196A>G | ENSP00000506170.1:p.Tyr399Cys | |
| ENST00000680761.1:c.1196A>G | ENSP00000506421.1:p.Tyr399Cys | |
| ENST00000680797.1:c.*957A>G | ENSP00000506717.1:n.*957A>G | |
| ENST00000680829.1:c.*131A>G | ENSP00000506408.1:n.*131A>G | |
| ENST00000680866.1:c.*361A>G | ENSP00000505649.1:n.*361A>G | |
| ENST00000680996.1:c.*436A>G | ENSP00000505468.1:n.*436A>G | |
| ENST00000681221.1:c.*131A>G | ENSP00000505136.1:n.*131A>G | |
| ENST00000681225.1:c.1196A>G | ENSP00000505016.1:p.Tyr399Cys | |
| ENST00000681351.1:c.*361A>G | ENSP00000506652.1:n.*361A>G | |
| ENST00000681384.1:c.*396A>G | ENSP00000506249.1:n.*396A>G | |
| ENST00000681417.1:c.1196A>G | ENSP00000505965.1:p.Tyr399Cys | |
| ENST00000681489.1:c.1196A>G | ENSP00000505200.1:p.Tyr399Cys | |
| ENST00000681575.1:c.1196A>G | ENSP00000505743.1:p.Tyr399Cys | |
| ENST00000681699.1:c.1289A>G | ENSP00000504969.1:p.Tyr430Cys | |
| ENST00000681723.1:c.*361A>G | ENSP00000506059.1:n.*361A>G | |
| ENST00000681765.1:c.1022A>G | ENSP00000505811.1:p.Tyr341Cys | |
| ENST00000681853.1:n.2154A>G | ||
| ENST00000299626.9:c.1460A>G | ENSP00000299626.5:p.Tyr487Cys | |
| ENST00000376156.7:c.*131A>G | ENSP00000365326.3:n.*131A>G | |
| ENST00000525783.5:c.353A>G | ||
| ENST00000526737.5:c.*1092A>G | ENSP00000436366.1:n.*1092A>G | |
| ENST00000526849.5:c.473A>G | ENSP00000434388.1:p.Tyr158Cys | |
| ENST00000530608.5:c.565A>G | ||
| ENST00000531213.5:n.378A>G | ||
| ENST00000532306.5:c.820A>G | ||
| NM_001007027.2:c.*131A>G | NP_001007028.1:n.*131A>G | |
| NM_024079.4:c.1460A>G | NP_076984.2:p.Tyr487Cys | |
| XM_005274247.2:c.1433A>G | XP_005274304.1:p.Tyr478Cys | |
| XM_011545251.1:c.1286A>G | XP_011543553.1:p.Tyr429Cys | |
| XM_011545252.1:c.1196A>G | XP_011543554.1:p.Tyr399Cys | |
| XR_428923.2:n.1498A>G | ||
| XR_950044.1:n.1392A>G | ||
| XR_950045.1:n.1467A>G | ||
| XM_005274247.3:c.1433A>G | XP_005274304.1:p.Tyr478Cys | |
| XM_011545252.2:c.1196A>G | XP_011543554.1:p.Tyr399Cys | |
| XM_017018274.1:c.*131A>G | XP_016873763.1:n.*131A>G | |
| XR_001747956.1:n.2248A>G | ||
| XR_428923.4:n.1481A>G | ||
| XR_950044.3:n.1375A>G | ||
| XR_950045.3:n.1450A>G | ||
| NM_024079.5:c.1460A>G MANE Select | NP_076984.2:p.Tyr487Cys | |
| NM_001007027.3:c.*131A>G | NP_001007028.1:n.*131A>G |