Linked Data
ClinVar Variation Id:
1858
ClinVar RCV Id:
RCV000001932
dbSNP Id:
rs267606759
ExAC:
2:242690786 G / T
gnomAD v2:
2-242690786-G-T
gnomAD v3:
2-241751371-G-T
gnomAD v4:
2-241751371-G-T
PubMed:
PMID:16081310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241751371G>T , CM000664.2:g.241751371G>T | GRCh38 |
| NC_000002.11:g.242690786G>T , CM000664.1:g.242690786G>T | GRCh37 |
| NC_000002.10:g.242339459G>T | NCBI36 |
| NG_012012.1:g.21757G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1123G>T MANE Select | ENSP00000315351.4:p.Asp375Tyr | |
| ENST00000321264.8:c.1123G>T | ENSP00000315351.4:p.Asp375Tyr | |
| ENST00000400769.6:c.854-4478G>T | ENSP00000383580.2:n.854-4478G>T | |
| ENST00000403782.5:c.721G>T | ENSP00000384723.1:p.Asp241Tyr | |
| ENST00000432449.1:c.383G>T | ||
| ENST00000436747.5:c.*1439G>T | ENSP00000400212.1:n.*1439G>T | |
| ENST00000454048.1:c.226G>T | ENSP00000404596.1:p.Asp76Tyr | |
| ENST00000467427.5:n.389+1077G>T | ||
| ENST00000470343.5:n.604G>T | ||
| ENST00000473126.1:n.322G>T | ||
| ENST00000486953.5:n.163+1077G>T | ||
| ENST00000496252.5:n.478G>T | ||
| NM_001287249.1:c.721G>T | NP_001274178.1:p.Asp241Tyr | |
| NM_152783.4:c.1123G>T | NP_689996.4:p.Asp375Tyr | |
| NR_109778.1:n.1063-4478G>T | ||
| XM_011511734.1:c.1201G>T | XP_011510036.1:p.Asp401Tyr | |
| XM_011511735.1:c.1201G>T | XP_011510037.1:p.Asp401Tyr | |
| XM_011511736.1:c.1123G>T | XP_011510038.1:p.Asp375Tyr | |
| XM_011511737.1:c.1201G>T | XP_011510039.1:p.Asp401Tyr | |
| XM_011511742.1:c.*21G>T | XP_011510044.1:n.*21G>T | |
| XM_011511743.1:c.*21G>T | XP_011510045.1:n.*21G>T | |
| XM_011511744.1:c.*21G>T | XP_011510046.1:n.*21G>T | |
| XM_011511745.1:c.1201G>T | XP_011510047.1:p.Asp401Tyr | |
| XM_011511748.1:c.*21G>T | XP_011510050.1:n.*21G>T | |
| XM_011511749.1:c.1179+1077G>T | XP_011510051.1:n.1179+1077G>T | |
| XM_011511750.1:c.1201G>T | XP_011510052.1:p.Asp401Tyr | |
| XM_011511751.1:c.1212+792G>T | XP_011510053.1:n.1212+792G>T | |
| XM_011511753.1:c.1075+1077G>T | XP_011510055.1:n.1075+1077G>T | |
| XM_011511754.1:c.640G>T | XP_011510056.1:p.Asp214Tyr | |
| XM_011511755.1:c.631G>T | XP_011510057.1:p.Asp211Tyr | |
| XM_011511756.1:c.853+6494G>T | XP_011510058.1:n.853+6494G>T | |
| XR_241434.3:n.1462G>T | ||
| XR_923003.1:n.1984G>T | ||
| XR_923004.1:n.1755G>T | ||
| XR_923005.1:n.1498G>T | ||
| XR_923006.1:n.1498G>T | ||
| XR_923007.1:n.1465G>T | ||
| XR_923008.1:n.1361G>T | ||
| XR_923009.1:n.1361G>T | ||
| XR_923010.1:n.1795G>T | ||
| XR_923011.1:n.1566G>T | ||
| XR_923012.1:n.1500G>T | ||
| XR_923014.1:n.1014-4478G>T | ||
| NM_001352824.1:c.562G>T | NP_001339753.1:p.Asp188Tyr | |
| XM_011511734.2:c.1201G>T | XP_011510036.1:p.Asp401Tyr | |
| XM_011511735.2:c.1201G>T | XP_011510037.1:p.Asp401Tyr | |
| XM_011511736.2:c.1123G>T | XP_011510038.1:p.Asp375Tyr | |
| XM_011511737.3:c.1201G>T | XP_011510039.1:p.Asp401Tyr | |
| XM_011511743.2:c.*21G>T | XP_011510045.1:n.*21G>T | |
| XM_011511744.2:c.*21G>T | XP_011510046.1:n.*21G>T | |
| XM_011511745.3:c.1201G>T | XP_011510047.1:p.Asp401Tyr | |
| XM_011511749.3:c.1179+1077G>T | XP_011510051.1:n.1179+1077G>T | |
| XM_011511750.3:c.1201G>T | XP_011510052.1:p.Asp401Tyr | |
| XM_011511751.2:c.1212+792G>T | XP_011510053.1:n.1212+792G>T | |
| XM_011511753.3:c.1075+1077G>T | XP_011510055.1:n.1075+1077G>T | |
| XM_011511756.2:c.853+6494G>T | XP_011510058.1:n.853+6494G>T | |
| XM_017004828.2:c.1123G>T | XP_016860317.1:p.Asp375Tyr | |
| XM_017004829.2:c.*21G>T | XP_016860318.1:n.*21G>T | |
| XM_017004830.2:c.1201G>T | XP_016860319.1:p.Asp401Tyr | |
| XM_024453102.1:c.973G>T | XP_024308870.1:p.Asp325Tyr | |
| XR_001738918.2:n.1497G>T | ||
| XR_001738919.2:n.1431G>T | ||
| XR_002959334.1:n.1983G>T | ||
| XR_002959335.1:n.1627G>T | ||
| XR_241434.4:n.1461G>T | ||
| XR_923004.3:n.1754G>T | ||
| XR_923005.2:n.1497G>T | ||
| XR_923007.3:n.1464G>T | ||
| XR_923009.2:n.1360G>T | ||
| XR_923010.2:n.1794G>T | ||
| XR_923011.3:n.1565G>T | ||
| XR_923012.2:n.1499G>T | ||
| XR_923014.3:n.1013-4478G>T | ||
| NM_152783.5:c.1123G>T MANE Select | NP_689996.4:p.Asp375Tyr | |
| NM_001287249.2:c.721G>T | NP_001274178.1:p.Asp241Tyr | |
| NM_001352824.2:c.562G>T | NP_001339753.1:p.Asp188Tyr | |
| NR_109778.2:n.1012-4478G>T |