Linked Data
ClinVar Variation Id:
296307
dbSNP Id:
rs16832619
ExAC:
1:235602193 A / G
gnomAD v2:
1-235602193-A-G
gnomAD v3:
1-235438878-A-G
gnomAD v4:
1-235438878-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235438878A>G , CM000663.2:g.235438878A>G | GRCh38 |
| NC_000001.10:g.235602193A>G , CM000663.1:g.235602193A>G | GRCh37 |
| NC_000001.9:g.233668816A>G | NCBI36 |
| NG_009230.1:g.76466A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.1037A>G | ENSP00000355560.4:p.Glu346Gly | |
| ENST00000406207.5:c.1226A>G | ENSP00000384571.1:p.Glu409Gly | |
| ENST00000472011.6:n.1950A>G | ||
| ENST00000543662.4:c.1379A>G | ENSP00000439170.1:p.Glu460Gly | |
| ENST00000642339.1:c.*923A>G | ENSP00000495425.1:n.*923A>G | |
| ENST00000642431.1:c.1803A>G | ||
| ENST00000642463.1:c.*1124A>G | ENSP00000495007.1:n.*1124A>G | |
| ENST00000642503.1:c.*1000A>G | ENSP00000494334.1:n.*1000A>G | |
| ENST00000642610.2:c.1226A>G MANE Select | ENSP00000494796.1:p.Glu409Gly | |
| ENST00000642764.1:n.2057A>G | ||
| ENST00000643125.1:c.*241A>G | ENSP00000494102.1:n.*241A>G | |
| ENST00000643142.1:c.*717A>G | ENSP00000494755.1:n.*717A>G | |
| ENST00000643238.1:c.*246A>G | ENSP00000495916.1:n.*246A>G | |
| ENST00000643410.1:c.*516A>G | ENSP00000495030.1:n.*516A>G | |
| ENST00000643487.1:n.1913A>G | ||
| ENST00000643524.1:c.*811A>G | ENSP00000494026.1:n.*811A>G | |
| ENST00000643615.1:c.*1116+1404A>G | ENSP00000496103.1:n.*1116+1404A>G | |
| ENST00000643993.1:n.1362A>G | ||
| ENST00000643994.1:c.*1226A>G | ENSP00000496322.1:n.*1226A>G | |
| ENST00000644037.1:c.*1436A>G | ENSP00000496408.1:n.*1436A>G | |
| ENST00000644055.1:c.*1851A>G | ENSP00000496307.1:n.*1851A>G | |
| ENST00000644126.1:n.2898A>G | ||
| ENST00000644217.1:c.1226A>G | ENSP00000494646.1:p.Glu409Gly | |
| ENST00000644265.1:c.595A>G | ||
| ENST00000644578.1:c.1040A>G | ENSP00000495953.1:p.Glu347Gly | |
| ENST00000644604.1:c.1226A>G | ENSP00000495961.1:p.Glu409Gly | |
| ENST00000644680.1:c.*1747A>G | ENSP00000496173.1:n.*1747A>G | |
| ENST00000644838.1:c.*609A>G | ENSP00000495910.1:n.*609A>G | |
| ENST00000644910.1:c.1833A>G | ||
| ENST00000645205.1:c.1226A>G | ENSP00000495823.1:p.Glu409Gly | |
| ENST00000645351.1:c.1226A>G | ENSP00000494319.1:p.Glu409Gly | |
| ENST00000645551.1:c.*943A>G | ENSP00000495928.1:n.*943A>G | |
| ENST00000645578.1:c.*1000A>G | ENSP00000496495.1:n.*1000A>G | |
| ENST00000645582.1:c.*1056A>G | ENSP00000494980.1:n.*1056A>G | |
| ENST00000645655.1:c.1226A>G | ENSP00000495202.1:p.Glu409Gly | |
| ENST00000645662.1:c.*685A>G | ENSP00000495964.1:n.*685A>G | |
| ENST00000645836.1:c.*1000A>G | ENSP00000493915.1:n.*1000A>G | |
| ENST00000645899.1:c.1226A>G | ENSP00000496773.1:p.Glu409Gly | |
| ENST00000645964.1:c.*1092A>G | ENSP00000494208.1:n.*1092A>G | |
| ENST00000646104.1:c.*1694A>G | ENSP00000495475.1:n.*1694A>G | |
| ENST00000646186.1:c.*898A>G | ENSP00000493806.1:n.*898A>G | |
| ENST00000646286.1:c.*1119A>G | ENSP00000494291.1:n.*1119A>G | |
| ENST00000646463.1:c.*991A>G | ENSP00000494541.1:n.*991A>G | |
| ENST00000646528.1:c.*1942A>G | ENSP00000496553.1:n.*1942A>G | |
| ENST00000646536.1:c.*516A>G | ENSP00000494801.1:n.*516A>G | |
| ENST00000646624.1:c.1226A>G | ENSP00000494575.1:p.Glu409Gly | |
| ENST00000646821.1:c.*516A>G | ENSP00000495257.1:n.*516A>G | |
| ENST00000646842.1:n.670A>G | ||
| ENST00000646848.1:c.*441A>G | ENSP00000495831.1:n.*441A>G | |
| ENST00000647186.1:c.1226A>G | ENSP00000494775.1:p.Glu409Gly | |
| ENST00000647233.1:n.2206A>G | ||
| ENST00000647322.1:c.817A>G | ||
| ENST00000647418.1:c.*1000A>G | ENSP00000493552.1:n.*1000A>G | |
| ENST00000647428.1:c.887A>G | ENSP00000495630.1:p.Glu296Gly | |
| ENST00000651186.1:c.887A>G | ENSP00000498645.1:p.Glu296Gly | |
| ENST00000366601.7:c.1226A>G | ENSP00000355560.3:p.Glu409Gly | |
| ENST00000406207.4:c.1226A>G | ENSP00000384571.1:p.Glu409Gly | |
| ENST00000472011.5:n.1278A>G | ||
| ENST00000543662.3:c.1379A>G | ENSP00000439170.1:p.Glu460Gly | |
| NM_001079515.2:c.1226A>G | NP_001072983.1:p.Glu409Gly | |
| NM_001287801.1:c.1379A>G | NP_001274730.1:p.Glu460Gly | |
| NM_001287802.1:c.887A>G | NP_001274731.1:p.Glu296Gly | |
| NM_003193.4:c.1226A>G | NP_003184.1:p.Glu409Gly | |
| NM_003193.5:c.1226A>G MANE Select | NP_003184.1:p.Glu409Gly | |
| NM_001079515.3:c.1226A>G | NP_001072983.1:p.Glu409Gly | |
| NM_001287801.2:c.1379A>G | NP_001274730.1:p.Glu460Gly | |
| NM_001287802.2:c.887A>G | NP_001274731.1:p.Glu296Gly |