Linked Data
ClinVar Variation Id:
210810
dbSNP Id:
rs139321130
ExAC:
2:242690726 G / A
gnomAD v2:
2-242690726-G-A
gnomAD v3:
2-241751311-G-A
gnomAD v4:
2-241751311-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241751311G>A , CM000664.2:g.241751311G>A | GRCh38 |
| NC_000002.11:g.242690726G>A , CM000664.1:g.242690726G>A | GRCh37 |
| NC_000002.10:g.242339399G>A | NCBI36 |
| NG_012012.1:g.21697G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321264.9:c.1063G>A MANE Select | ENSP00000315351.4:p.Gly355Ser | |
| ENST00000321264.8:c.1063G>A | ENSP00000315351.4:p.Gly355Ser | |
| ENST00000400769.6:c.854-4538G>A | ENSP00000383580.2:n.854-4538G>A | |
| ENST00000403782.5:c.661G>A | ENSP00000384723.1:p.Gly221Ser | |
| ENST00000432449.1:c.323G>A | ||
| ENST00000436747.5:c.*1379G>A | ENSP00000400212.1:n.*1379G>A | |
| ENST00000454048.1:c.166G>A | ENSP00000404596.1:p.Gly56Ser | |
| ENST00000467427.5:n.389+1017G>A | ||
| ENST00000470343.5:n.544G>A | ||
| ENST00000473126.1:n.262G>A | ||
| ENST00000486953.5:n.163+1017G>A | ||
| ENST00000496252.5:n.418G>A | ||
| NM_001287249.1:c.661G>A | NP_001274178.1:p.Gly221Ser | |
| NM_152783.4:c.1063G>A | NP_689996.4:p.Gly355Ser | |
| NR_109778.1:n.1063-4538G>A | ||
| XM_011511734.1:c.1141G>A | XP_011510036.1:p.Gly381Ser | |
| XM_011511735.1:c.1141G>A | XP_011510037.1:p.Gly381Ser | |
| XM_011511736.1:c.1063G>A | XP_011510038.1:p.Gly355Ser | |
| XM_011511737.1:c.1141G>A | XP_011510039.1:p.Gly381Ser | |
| XM_011511742.1:c.1278G>A | XP_011510044.1:p.Trp426Ter | |
| XM_011511743.1:c.1278G>A | XP_011510045.1:p.Trp426Ter | |
| XM_011511744.1:c.1278G>A | XP_011510046.1:p.Trp426Ter | |
| XM_011511745.1:c.1141G>A | XP_011510047.1:p.Gly381Ser | |
| XM_011511748.1:c.1212G>A | XP_011510050.1:p.Trp404Ter | |
| XM_011511749.1:c.1179+1017G>A | XP_011510051.1:n.1179+1017G>A | |
| XM_011511750.1:c.1141G>A | XP_011510052.1:p.Gly381Ser | |
| XM_011511751.1:c.1212+732G>A | XP_011510053.1:n.1212+732G>A | |
| XM_011511753.1:c.1075+1017G>A | XP_011510055.1:n.1075+1017G>A | |
| XM_011511754.1:c.580G>A | XP_011510056.1:p.Gly194Ser | |
| XM_011511755.1:c.571G>A | XP_011510057.1:p.Gly191Ser | |
| XM_011511756.1:c.853+6434G>A | XP_011510058.1:n.853+6434G>A | |
| XM_011511757.1:c.*79G>A | XP_011510059.1:n.*79G>A | |
| XR_241434.3:n.1402G>A | ||
| XR_923003.1:n.1924G>A | ||
| XR_923004.1:n.1695G>A | ||
| XR_923005.1:n.1438G>A | ||
| XR_923006.1:n.1438G>A | ||
| XR_923007.1:n.1405G>A | ||
| XR_923008.1:n.1301G>A | ||
| XR_923009.1:n.1301G>A | ||
| XR_923010.1:n.1735G>A | ||
| XR_923011.1:n.1506G>A | ||
| XR_923012.1:n.1440G>A | ||
| XR_923014.1:n.1014-4538G>A | ||
| NM_001352824.1:c.502G>A | NP_001339753.1:p.Gly168Ser | |
| XM_011511734.2:c.1141G>A | XP_011510036.1:p.Gly381Ser | |
| XM_011511735.2:c.1141G>A | XP_011510037.1:p.Gly381Ser | |
| XM_011511736.2:c.1063G>A | XP_011510038.1:p.Gly355Ser | |
| XM_011511737.3:c.1141G>A | XP_011510039.1:p.Gly381Ser | |
| XM_011511743.2:c.1278G>A | XP_011510045.1:p.Trp426Ter | |
| XM_011511744.2:c.1278G>A | XP_011510046.1:p.Trp426Ter | |
| XM_011511745.3:c.1141G>A | XP_011510047.1:p.Gly381Ser | |
| XM_011511749.3:c.1179+1017G>A | XP_011510051.1:n.1179+1017G>A | |
| XM_011511750.3:c.1141G>A | XP_011510052.1:p.Gly381Ser | |
| XM_011511751.2:c.1212+732G>A | XP_011510053.1:n.1212+732G>A | |
| XM_011511753.3:c.1075+1017G>A | XP_011510055.1:n.1075+1017G>A | |
| XM_011511756.2:c.853+6434G>A | XP_011510058.1:n.853+6434G>A | |
| XM_017004828.2:c.1063G>A | XP_016860317.1:p.Gly355Ser | |
| XM_017004829.2:c.1278G>A | XP_016860318.1:p.Trp426Ter | |
| XM_017004830.2:c.1141G>A | XP_016860319.1:p.Gly381Ser | |
| XM_024453102.1:c.913G>A | XP_024308870.1:p.Gly305Ser | |
| XR_001738918.2:n.1437G>A | ||
| XR_001738919.2:n.1371G>A | ||
| XR_002959334.1:n.1923G>A | ||
| XR_002959335.1:n.1567G>A | ||
| XR_241434.4:n.1401G>A | ||
| XR_923004.3:n.1694G>A | ||
| XR_923005.2:n.1437G>A | ||
| XR_923007.3:n.1404G>A | ||
| XR_923009.2:n.1300G>A | ||
| XR_923010.2:n.1734G>A | ||
| XR_923011.3:n.1505G>A | ||
| XR_923012.2:n.1439G>A | ||
| XR_923014.3:n.1013-4538G>A | ||
| NM_152783.5:c.1063G>A MANE Select | NP_689996.4:p.Gly355Ser | |
| NM_001287249.2:c.661G>A | NP_001274178.1:p.Gly221Ser | |
| NM_001352824.2:c.502G>A | NP_001339753.1:p.Gly168Ser | |
| NR_109778.2:n.1012-4538G>A |