Linked Data
dbSNP Id:
rs772618143
ExAC:
2:242690714 G / A
gnomAD v2:
2-242690714-G-A
gnomAD v3:
2-241751299-G-A
gnomAD v4:
2-241751299-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241751299G>A , CM000664.2:g.241751299G>A | GRCh38 |
| NC_000002.11:g.242690714G>A , CM000664.1:g.242690714G>A | GRCh37 |
| NC_000002.10:g.242339387G>A | NCBI36 |
| NG_012012.1:g.21685G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1051G>A MANE Select | ENSP00000315351.4:p.Ala351Thr | |
| ENST00000321264.8:c.1051G>A | ENSP00000315351.4:p.Ala351Thr | |
| ENST00000400769.6:c.854-4550G>A | ENSP00000383580.2:n.854-4550G>A | |
| ENST00000403782.5:c.649G>A | ENSP00000384723.1:p.Ala217Thr | |
| ENST00000432449.1:c.311G>A | ||
| ENST00000436747.5:c.*1367G>A | ENSP00000400212.1:n.*1367G>A | |
| ENST00000454048.1:c.154G>A | ENSP00000404596.1:p.Ala52Thr | |
| ENST00000467427.5:n.389+1005G>A | ||
| ENST00000470343.5:n.532G>A | ||
| ENST00000473126.1:n.250G>A | ||
| ENST00000486953.5:n.163+1005G>A | ||
| ENST00000496252.5:n.406G>A | ||
| NM_001287249.1:c.649G>A | NP_001274178.1:p.Ala217Thr | |
| NM_152783.4:c.1051G>A | NP_689996.4:p.Ala351Thr | |
| NR_109778.1:n.1063-4550G>A | ||
| XM_011511734.1:c.1129G>A | XP_011510036.1:p.Ala377Thr | |
| XM_011511735.1:c.1129G>A | XP_011510037.1:p.Ala377Thr | |
| XM_011511736.1:c.1051G>A | XP_011510038.1:p.Ala351Thr | |
| XM_011511737.1:c.1129G>A | XP_011510039.1:p.Ala377Thr | |
| XM_011511742.1:c.1266G>A | XP_011510044.1:p.Thr422= | |
| XM_011511743.1:c.1266G>A | XP_011510045.1:p.Thr422= | |
| XM_011511744.1:c.1266G>A | XP_011510046.1:p.Thr422= | |
| XM_011511745.1:c.1129G>A | XP_011510047.1:p.Ala377Thr | |
| XM_011511748.1:c.1200G>A | XP_011510050.1:p.Thr400= | |
| XM_011511749.1:c.1179+1005G>A | XP_011510051.1:n.1179+1005G>A | |
| XM_011511750.1:c.1129G>A | XP_011510052.1:p.Ala377Thr | |
| XM_011511751.1:c.1212+720G>A | XP_011510053.1:n.1212+720G>A | |
| XM_011511753.1:c.1075+1005G>A | XP_011510055.1:n.1075+1005G>A | |
| XM_011511754.1:c.568G>A | XP_011510056.1:p.Ala190Thr | |
| XM_011511755.1:c.559G>A | XP_011510057.1:p.Ala187Thr | |
| XM_011511756.1:c.853+6422G>A | XP_011510058.1:n.853+6422G>A | |
| XM_011511757.1:c.*67G>A | XP_011510059.1:n.*67G>A | |
| XR_241434.3:n.1390G>A | ||
| XR_923003.1:n.1912G>A | ||
| XR_923004.1:n.1683G>A | ||
| XR_923005.1:n.1426G>A | ||
| XR_923006.1:n.1426G>A | ||
| XR_923007.1:n.1393G>A | ||
| XR_923008.1:n.1289G>A | ||
| XR_923009.1:n.1289G>A | ||
| XR_923010.1:n.1723G>A | ||
| XR_923011.1:n.1494G>A | ||
| XR_923012.1:n.1428G>A | ||
| XR_923014.1:n.1014-4550G>A | ||
| NM_001352824.1:c.490G>A | NP_001339753.1:p.Ala164Thr | |
| XM_011511734.2:c.1129G>A | XP_011510036.1:p.Ala377Thr | |
| XM_011511735.2:c.1129G>A | XP_011510037.1:p.Ala377Thr | |
| XM_011511736.2:c.1051G>A | XP_011510038.1:p.Ala351Thr | |
| XM_011511737.3:c.1129G>A | XP_011510039.1:p.Ala377Thr | |
| XM_011511743.2:c.1266G>A | XP_011510045.1:p.Thr422= | |
| XM_011511744.2:c.1266G>A | XP_011510046.1:p.Thr422= | |
| XM_011511745.3:c.1129G>A | XP_011510047.1:p.Ala377Thr | |
| XM_011511749.3:c.1179+1005G>A | XP_011510051.1:n.1179+1005G>A | |
| XM_011511750.3:c.1129G>A | XP_011510052.1:p.Ala377Thr | |
| XM_011511751.2:c.1212+720G>A | XP_011510053.1:n.1212+720G>A | |
| XM_011511753.3:c.1075+1005G>A | XP_011510055.1:n.1075+1005G>A | |
| XM_011511756.2:c.853+6422G>A | XP_011510058.1:n.853+6422G>A | |
| XM_011511757.3:c.*67G>A | XP_011510059.1:n.*67G>A | |
| XM_017004828.2:c.1051G>A | XP_016860317.1:p.Ala351Thr | |
| XM_017004829.2:c.1266G>A | XP_016860318.1:p.Thr422= | |
| XM_017004830.2:c.1129G>A | XP_016860319.1:p.Ala377Thr | |
| XM_024453102.1:c.901G>A | XP_024308870.1:p.Ala301Thr | |
| XR_001738918.2:n.1425G>A | ||
| XR_001738919.2:n.1359G>A | ||
| XR_002959334.1:n.1911G>A | ||
| XR_002959335.1:n.1555G>A | ||
| XR_241434.4:n.1389G>A | ||
| XR_923004.3:n.1682G>A | ||
| XR_923005.2:n.1425G>A | ||
| XR_923007.3:n.1392G>A | ||
| XR_923009.2:n.1288G>A | ||
| XR_923010.2:n.1722G>A | ||
| XR_923011.3:n.1493G>A | ||
| XR_923012.2:n.1427G>A | ||
| XR_923014.3:n.1013-4550G>A | ||
| NM_152783.5:c.1051G>A MANE Select | NP_689996.4:p.Ala351Thr | |
| NM_001287249.2:c.649G>A | NP_001274178.1:p.Ala217Thr | |
| NM_001352824.2:c.490G>A | NP_001339753.1:p.Ala164Thr | |
| NR_109778.2:n.1012-4550G>A |