Linked Data
ClinVar Variation Id:
239489
dbSNP Id:
rs62622817
ExAC:
17:38785042 C / A
gnomAD v2:
17-38785042-C-A
gnomAD v3:
17-40628790-C-A
gnomAD v4:
17-40628790-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628790C>A , CM000679.2:g.40628790C>A | GRCh38 |
| NC_000017.10:g.38785042C>A , CM000679.1:g.38785042C>A | GRCh37 |
| NC_000017.9:g.36038568C>A | NCBI36 |
| NG_032163.1:g.24062G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264640.9:c.*793G>T | ENSP00000466608.2:n.*793G>T | |
| ENST00000348513.12:c.1231G>T MANE Select | ENSP00000323967.6:p.Glu411Ter | |
| ENST00000377808.9:c.*218G>T | ENSP00000367039.4:n.*218G>T | |
| ENST00000400122.8:c.*218G>T | ENSP00000411607.2:n.*218G>T | |
| ENST00000469334.6:n.1829G>T | ||
| ENST00000578044.6:c.1021G>T | ENSP00000464511.1:p.Glu341Ter | |
| ENST00000578112.6:c.*1028G>T | ENSP00000464501.1:n.*1028G>T | |
| ENST00000580419.6:c.*210G>T | ENSP00000462475.2:n.*210G>T | |
| ENST00000642576.1:n.2374G>T | ||
| ENST00000643030.1:n.1854G>T | ||
| ENST00000643255.1:c.*3295G>T | ENSP00000493957.1:n.*3295G>T | |
| ENST00000643318.1:c.1021G>T | ENSP00000494771.1:p.Glu341Ter | |
| ENST00000643378.1:n.1786G>T | ||
| ENST00000643683.1:c.1231G>T | ENSP00000496094.1:p.Glu411Ter | |
| ENST00000643893.1:n.1524G>T | ||
| ENST00000644443.1:n.3119G>T | ||
| ENST00000644523.1:n.1277G>T | ||
| ENST00000644527.1:c.1003G>T | ENSP00000493974.1:p.Glu335Ter | |
| ENST00000644701.1:c.*218G>T | ENSP00000496097.1:n.*218G>T | |
| ENST00000644909.1:c.*500G>T | ENSP00000493649.1:n.*500G>T | |
| ENST00000645152.1:n.1894G>T | ||
| ENST00000645227.1:c.*919G>T | ENSP00000495021.1:n.*919G>T | |
| ENST00000646242.1:n.7143G>T | ||
| ENST00000646283.1:c.1039G>T | ENSP00000494537.1:p.Glu347Ter | |
| ENST00000646401.1:n.2597G>T | ||
| ENST00000646448.1:n.2505G>T | ||
| ENST00000646856.1:c.*1107G>T | ENSP00000494505.1:n.*1107G>T | |
| ENST00000647294.1:c.*1161G>T | ENSP00000494815.1:n.*1161G>T | |
| ENST00000647508.1:c.1126G>T | ENSP00000496445.1:p.Glu376Ter | |
| ENST00000647515.1:c.*762G>T | ENSP00000495857.1:n.*762G>T | |
| ENST00000348513.10:c.1231G>T | ENSP00000323967.6:p.Glu411Ter | |
| ENST00000377808.8:c.*218G>T | ENSP00000367039.4:n.*218G>T | |
| ENST00000400122.7:c.*218G>T | ENSP00000411607.2:n.*218G>T | |
| ENST00000431889.6:c.1177G>T | ENSP00000445370.1:p.Glu393Ter | |
| ENST00000469334.5:n.1818G>T | ||
| ENST00000578044.5:c.1021G>T | ENSP00000464511.1:p.Glu341Ter | |
| ENST00000578112.5:c.*1028G>T | ENSP00000464501.1:n.*1028G>T | |
| ENST00000580419.5:c.1126G>T | ENSP00000462475.1:p.Glu376Ter | |
| NM_003079.4:c.1231G>T | NP_003070.3:p.Glu411Ter | |
| NM_003079.5:c.1231G>T MANE Select | NP_003070.3:p.Glu411Ter |