Linked Data
ClinVar Variation Id:
463412
ClinVar RCV Id:
RCV000532044
dbSNP Id:
rs766200637
ExAC:
17:38785191 G / A
gnomAD v2:
17-38785191-G-A
gnomAD v4:
17-40628939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628939G>A , CM000679.2:g.40628939G>A | GRCh38 |
| NC_000017.10:g.38785191G>A , CM000679.1:g.38785191G>A | GRCh37 |
| NC_000017.9:g.36038717G>A | NCBI36 |
| NG_032163.1:g.23913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*644C>T | ENSP00000466608.2:n.*644C>T | |
| ENST00000348513.12:c.1082C>T MANE Select | ENSP00000323967.6:p.Thr361Met | |
| ENST00000377808.9:c.*69C>T | ENSP00000367039.4:n.*69C>T | |
| ENST00000400122.8:c.*69C>T | ENSP00000411607.2:n.*69C>T | |
| ENST00000469334.6:n.1680C>T | ||
| ENST00000578044.6:c.872C>T | ENSP00000464511.1:p.Thr291Met | |
| ENST00000578112.6:c.*879C>T | ENSP00000464501.1:n.*879C>T | |
| ENST00000580419.6:c.*61C>T | ENSP00000462475.2:n.*61C>T | |
| ENST00000642576.1:n.2225C>T | ||
| ENST00000643030.1:n.1705C>T | ||
| ENST00000643255.1:c.*3146C>T | ENSP00000493957.1:n.*3146C>T | |
| ENST00000643318.1:c.872C>T | ENSP00000494771.1:p.Thr291Met | |
| ENST00000643378.1:n.1637C>T | ||
| ENST00000643683.1:c.1082C>T | ENSP00000496094.1:p.Thr361Met | |
| ENST00000643893.1:n.1375C>T | ||
| ENST00000644443.1:n.2970C>T | ||
| ENST00000644523.1:n.1128C>T | ||
| ENST00000644527.1:c.854C>T | ENSP00000493974.1:p.Thr285Met | |
| ENST00000644701.1:c.*69C>T | ENSP00000496097.1:n.*69C>T | |
| ENST00000644909.1:c.*351C>T | ENSP00000493649.1:n.*351C>T | |
| ENST00000645152.1:n.1745C>T | ||
| ENST00000645227.1:c.*770C>T | ENSP00000495021.1:n.*770C>T | |
| ENST00000646242.1:n.6994C>T | ||
| ENST00000646283.1:c.890C>T | ENSP00000494537.1:p.Thr297Met | |
| ENST00000646401.1:n.2448C>T | ||
| ENST00000646448.1:n.2356C>T | ||
| ENST00000646856.1:c.*958C>T | ENSP00000494505.1:n.*958C>T | |
| ENST00000647294.1:c.*1012C>T | ENSP00000494815.1:n.*1012C>T | |
| ENST00000647508.1:c.977C>T | ENSP00000496445.1:p.Thr326Met | |
| ENST00000647515.1:c.*613C>T | ENSP00000495857.1:n.*613C>T | |
| ENST00000348513.10:c.1082C>T | ENSP00000323967.6:p.Thr361Met | |
| ENST00000377808.8:c.*69C>T | ENSP00000367039.4:n.*69C>T | |
| ENST00000400122.7:c.*69C>T | ENSP00000411607.2:n.*69C>T | |
| ENST00000431889.6:c.1028C>T | ENSP00000445370.1:p.Thr343Met | |
| ENST00000469334.5:n.1669C>T | ||
| ENST00000476049.1:c.*1430C>T | ENSP00000463483.1:n.*1430C>T | |
| ENST00000578044.5:c.872C>T | ENSP00000464511.1:p.Thr291Met | |
| ENST00000578112.5:c.*879C>T | ENSP00000464501.1:n.*879C>T | |
| ENST00000580419.5:c.977C>T | ENSP00000462475.1:p.Thr326Met | |
| NM_003079.4:c.1082C>T | NP_003070.3:p.Thr361Met | |
| NM_003079.5:c.1082C>T MANE Select | NP_003070.3:p.Thr361Met |