Linked Data
ClinVar Variation Id:
414265
dbSNP Id:
rs755995632
ExAC:
17:38785106 C / T
gnomAD v2:
17-38785106-C-T
gnomAD v3:
17-40628854-C-T
gnomAD v4:
17-40628854-C-T
COSMIC:
COSM5154338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628854C>T , CM000679.2:g.40628854C>T | GRCh38 |
| NC_000017.10:g.38785106C>T , CM000679.1:g.38785106C>T | GRCh37 |
| NC_000017.9:g.36038632C>T | NCBI36 |
| NG_032163.1:g.23998G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264640.9:c.*729G>A | ENSP00000466608.2:n.*729G>A | |
| ENST00000348513.12:c.1167G>A MANE Select | ENSP00000323967.6:p.Ser389= | |
| ENST00000377808.9:c.*154G>A | ENSP00000367039.4:n.*154G>A | |
| ENST00000400122.8:c.*154G>A | ENSP00000411607.2:n.*154G>A | |
| ENST00000469334.6:n.1765G>A | ||
| ENST00000578044.6:c.957G>A | ENSP00000464511.1:p.Ser319= | |
| ENST00000578112.6:c.*964G>A | ENSP00000464501.1:n.*964G>A | |
| ENST00000580419.6:c.*146G>A | ENSP00000462475.2:n.*146G>A | |
| ENST00000642576.1:n.2310G>A | ||
| ENST00000643030.1:n.1790G>A | ||
| ENST00000643255.1:c.*3231G>A | ENSP00000493957.1:n.*3231G>A | |
| ENST00000643318.1:c.957G>A | ENSP00000494771.1:p.Ser319= | |
| ENST00000643378.1:n.1722G>A | ||
| ENST00000643683.1:c.1167G>A | ENSP00000496094.1:p.Ser389= | |
| ENST00000643893.1:n.1460G>A | ||
| ENST00000644443.1:n.3055G>A | ||
| ENST00000644523.1:n.1213G>A | ||
| ENST00000644527.1:c.939G>A | ENSP00000493974.1:p.Ser313= | |
| ENST00000644701.1:c.*154G>A | ENSP00000496097.1:n.*154G>A | |
| ENST00000644909.1:c.*436G>A | ENSP00000493649.1:n.*436G>A | |
| ENST00000645152.1:n.1830G>A | ||
| ENST00000645227.1:c.*855G>A | ENSP00000495021.1:n.*855G>A | |
| ENST00000646242.1:n.7079G>A | ||
| ENST00000646283.1:c.975G>A | ENSP00000494537.1:p.Ser325= | |
| ENST00000646401.1:n.2533G>A | ||
| ENST00000646448.1:n.2441G>A | ||
| ENST00000646856.1:c.*1043G>A | ENSP00000494505.1:n.*1043G>A | |
| ENST00000647294.1:c.*1097G>A | ENSP00000494815.1:n.*1097G>A | |
| ENST00000647508.1:c.1062G>A | ENSP00000496445.1:p.Ser354= | |
| ENST00000647515.1:c.*698G>A | ENSP00000495857.1:n.*698G>A | |
| ENST00000348513.10:c.1167G>A | ENSP00000323967.6:p.Ser389= | |
| ENST00000377808.8:c.*154G>A | ENSP00000367039.4:n.*154G>A | |
| ENST00000400122.7:c.*154G>A | ENSP00000411607.2:n.*154G>A | |
| ENST00000431889.6:c.1113G>A | ENSP00000445370.1:p.Ser371= | |
| ENST00000469334.5:n.1754G>A | ||
| ENST00000476049.1:c.*1515G>A | ENSP00000463483.1:n.*1515G>A | |
| ENST00000578044.5:c.957G>A | ENSP00000464511.1:p.Ser319= | |
| ENST00000578112.5:c.*964G>A | ENSP00000464501.1:n.*964G>A | |
| ENST00000580419.5:c.1062G>A | ENSP00000462475.1:p.Ser354= | |
| NM_003079.4:c.1167G>A | NP_003070.3:p.Ser389= | |
| NM_003079.5:c.1167G>A MANE Select | NP_003070.3:p.Ser389= |