Linked Data
ClinVar Variation Id:
2965531
ClinVar RCV Id:
RCV003825681
dbSNP Id:
rs1222565967
gnomAD v3:
1-235438846-A-T
gnomAD v4:
1-235438846-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235438846A>T , CM000663.2:g.235438846A>T | GRCh38 |
| NC_000001.10:g.235602161A>T , CM000663.1:g.235602161A>T | GRCh37 |
| NC_000001.9:g.233668784A>T | NCBI36 |
| NG_009230.1:g.76434A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.1005A>T | ENSP00000355560.4:p.Gly335= | |
| ENST00000406207.5:c.1194A>T | ENSP00000384571.1:p.Gly398= | |
| ENST00000472011.6:n.1918A>T | ||
| ENST00000543662.4:c.1347A>T | ENSP00000439170.1:p.Gly449= | |
| ENST00000642339.1:c.*891A>T | ENSP00000495425.1:n.*891A>T | |
| ENST00000642431.1:c.1771A>T | ||
| ENST00000642463.1:c.*1092A>T | ENSP00000495007.1:n.*1092A>T | |
| ENST00000642503.1:c.*968A>T | ENSP00000494334.1:n.*968A>T | |
| ENST00000642610.2:c.1194A>T MANE Select | ENSP00000494796.1:p.Gly398= | |
| ENST00000642764.1:n.2025A>T | ||
| ENST00000643125.1:c.*209A>T | ENSP00000494102.1:n.*209A>T | |
| ENST00000643142.1:c.*685A>T | ENSP00000494755.1:n.*685A>T | |
| ENST00000643238.1:c.*214A>T | ENSP00000495916.1:n.*214A>T | |
| ENST00000643410.1:c.*484A>T | ENSP00000495030.1:n.*484A>T | |
| ENST00000643487.1:n.1881A>T | ||
| ENST00000643524.1:c.*779A>T | ENSP00000494026.1:n.*779A>T | |
| ENST00000643615.1:c.*1116+1372A>T | ENSP00000496103.1:n.*1116+1372A>T | |
| ENST00000643993.1:n.1330A>T | ||
| ENST00000643994.1:c.*1194A>T | ENSP00000496322.1:n.*1194A>T | |
| ENST00000644037.1:c.*1404A>T | ENSP00000496408.1:n.*1404A>T | |
| ENST00000644055.1:c.*1819A>T | ENSP00000496307.1:n.*1819A>T | |
| ENST00000644126.1:n.2866A>T | ||
| ENST00000644217.1:c.1194A>T | ENSP00000494646.1:p.Gly398= | |
| ENST00000644265.1:c.563A>T | ||
| ENST00000644578.1:c.1008A>T | ENSP00000495953.1:p.Gly336= | |
| ENST00000644604.1:c.1194A>T | ENSP00000495961.1:p.Gly398= | |
| ENST00000644680.1:c.*1715A>T | ENSP00000496173.1:n.*1715A>T | |
| ENST00000644838.1:c.*577A>T | ENSP00000495910.1:n.*577A>T | |
| ENST00000644910.1:c.1801A>T | ||
| ENST00000645205.1:c.1194A>T | ENSP00000495823.1:p.Gly398= | |
| ENST00000645351.1:c.1194A>T | ENSP00000494319.1:p.Gly398= | |
| ENST00000645551.1:c.*911A>T | ENSP00000495928.1:n.*911A>T | |
| ENST00000645578.1:c.*968A>T | ENSP00000496495.1:n.*968A>T | |
| ENST00000645582.1:c.*1024A>T | ENSP00000494980.1:n.*1024A>T | |
| ENST00000645655.1:c.1194A>T | ENSP00000495202.1:p.Gly398= | |
| ENST00000645662.1:c.*653A>T | ENSP00000495964.1:n.*653A>T | |
| ENST00000645836.1:c.*968A>T | ENSP00000493915.1:n.*968A>T | |
| ENST00000645899.1:c.1194A>T | ENSP00000496773.1:p.Gly398= | |
| ENST00000645964.1:c.*1060A>T | ENSP00000494208.1:n.*1060A>T | |
| ENST00000646104.1:c.*1662A>T | ENSP00000495475.1:n.*1662A>T | |
| ENST00000646186.1:c.*866A>T | ENSP00000493806.1:n.*866A>T | |
| ENST00000646286.1:c.*1087A>T | ENSP00000494291.1:n.*1087A>T | |
| ENST00000646463.1:c.*959A>T | ENSP00000494541.1:n.*959A>T | |
| ENST00000646528.1:c.*1910A>T | ENSP00000496553.1:n.*1910A>T | |
| ENST00000646536.1:c.*484A>T | ENSP00000494801.1:n.*484A>T | |
| ENST00000646624.1:c.1194A>T | ENSP00000494575.1:p.Gly398= | |
| ENST00000646821.1:c.*484A>T | ENSP00000495257.1:n.*484A>T | |
| ENST00000646842.1:n.638A>T | ||
| ENST00000646848.1:c.*409A>T | ENSP00000495831.1:n.*409A>T | |
| ENST00000647186.1:c.1194A>T | ENSP00000494775.1:p.Gly398= | |
| ENST00000647233.1:n.2174A>T | ||
| ENST00000647322.1:c.785A>T | ||
| ENST00000647418.1:c.*968A>T | ENSP00000493552.1:n.*968A>T | |
| ENST00000647428.1:c.855A>T | ENSP00000495630.1:p.Gly285= | |
| ENST00000651186.1:c.855A>T | ENSP00000498645.1:p.Gly285= | |
| ENST00000366601.7:c.1194A>T | ENSP00000355560.3:p.Gly398= | |
| ENST00000406207.4:c.1194A>T | ENSP00000384571.1:p.Gly398= | |
| ENST00000472011.5:n.1246A>T | ||
| ENST00000543662.3:c.1347A>T | ENSP00000439170.1:p.Gly449= | |
| NM_001079515.2:c.1194A>T | NP_001072983.1:p.Gly398= | |
| NM_001287801.1:c.1347A>T | NP_001274730.1:p.Gly449= | |
| NM_001287802.1:c.855A>T | NP_001274731.1:p.Gly285= | |
| NM_003193.4:c.1194A>T | NP_003184.1:p.Gly398= | |
| NM_003193.5:c.1194A>T MANE Select | NP_003184.1:p.Gly398= | |
| NM_001079515.3:c.1194A>T | NP_001072983.1:p.Gly398= | |
| NM_001287801.2:c.1347A>T | NP_001274730.1:p.Gly449= | |
| NM_001287802.2:c.855A>T | NP_001274731.1:p.Gly285= |