Linked Data
ClinVar Variation Id:
486509
dbSNP Id:
rs771308672
ExAC:
17:38792312 C / T
gnomAD v2:
17-38792312-C-T
gnomAD v3:
17-40636060-C-T
gnomAD v4:
17-40636060-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40636060C>T , CM000679.2:g.40636060C>T | GRCh38 |
| NC_000017.10:g.38792312C>T , CM000679.1:g.38792312C>T | GRCh37 |
| NC_000017.9:g.36045838C>T | NCBI36 |
| NG_032163.1:g.16792G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.412G>A | ENSP00000466608.2:p.Ala138Thr | |
| ENST00000348513.12:c.412G>A MANE Select | ENSP00000323967.6:p.Ala138Thr | |
| ENST00000377808.9:c.307G>A | ENSP00000367039.4:p.Ala103Thr | |
| ENST00000400122.8:c.202G>A | ENSP00000411607.2:p.Ala68Thr | |
| ENST00000447024.6:c.412G>A | ENSP00000392958.2:p.Ala138Thr | |
| ENST00000469334.6:n.509G>A | ||
| ENST00000478349.7:c.364G>A | ENSP00000463216.2:p.Ala122Thr | |
| ENST00000493660.6:n.422G>A | ||
| ENST00000577721.6:c.202G>A | ENSP00000462857.2:p.Ala68Thr | |
| ENST00000578044.6:c.202G>A | ENSP00000464511.1:p.Ala68Thr | |
| ENST00000578112.6:c.*209G>A | ENSP00000464501.1:n.*209G>A | |
| ENST00000578995.6:n.415G>A | ||
| ENST00000580419.6:c.307G>A | ENSP00000462475.2:p.Ala103Thr | |
| ENST00000580654.6:c.358G>A | ENSP00000464061.2:p.Ala120Thr | |
| ENST00000642459.1:c.202G>A | ENSP00000496546.1:p.Ala68Thr | |
| ENST00000642576.1:n.387G>A | ||
| ENST00000643030.1:n.368G>A | ||
| ENST00000643255.1:c.*2476G>A | ENSP00000493957.1:n.*2476G>A | |
| ENST00000643318.1:c.202G>A | ENSP00000494771.1:p.Ala68Thr | |
| ENST00000643683.1:c.412G>A | ENSP00000496094.1:p.Ala138Thr | |
| ENST00000644257.1:n.374G>A | ||
| ENST00000644523.1:n.458G>A | ||
| ENST00000644527.1:c.202G>A | ENSP00000493974.1:p.Ala68Thr | |
| ENST00000644701.1:c.412G>A | ENSP00000496097.1:p.Ala138Thr | |
| ENST00000644909.1:c.202G>A | ENSP00000493649.1:p.Ala68Thr | |
| ENST00000645104.1:c.307G>A | ENSP00000496311.1:p.Ala103Thr | |
| ENST00000645152.1:n.408G>A | ||
| ENST00000645227.1:c.*21G>A | ENSP00000495021.1:n.*21G>A | |
| ENST00000645478.1:c.310G>A | ||
| ENST00000645663.1:n.394G>A | ||
| ENST00000646242.1:n.540G>A | ||
| ENST00000646283.1:c.202G>A | ENSP00000494537.1:p.Ala68Thr | |
| ENST00000646401.1:n.531G>A | ||
| ENST00000646448.1:n.518G>A | ||
| ENST00000646482.1:c.412G>A | ENSP00000496661.1:p.Ala138Thr | |
| ENST00000646856.1:c.*209G>A | ENSP00000494505.1:n.*209G>A | |
| ENST00000647221.1:n.481G>A | ||
| ENST00000647294.1:c.*342G>A | ENSP00000494815.1:n.*342G>A | |
| ENST00000647508.1:c.307G>A | ENSP00000496445.1:p.Ala103Thr | |
| ENST00000647515.1:c.202G>A | ENSP00000495857.1:p.Ala68Thr | |
| ENST00000348513.10:c.412G>A | ENSP00000323967.6:p.Ala138Thr | |
| ENST00000377808.8:c.307G>A | ENSP00000367039.4:p.Ala103Thr | |
| ENST00000400122.7:c.202G>A | ENSP00000411607.2:p.Ala68Thr | |
| ENST00000431889.6:c.358G>A | ENSP00000445370.1:p.Ala120Thr | |
| ENST00000469334.5:n.498G>A | ||
| ENST00000476049.1:c.*760G>A | ENSP00000463483.1:n.*760G>A | |
| ENST00000478349.6:c.364G>A | ENSP00000463216.1:p.Ala122Thr | |
| ENST00000481231.5:c.*342G>A | ENSP00000462381.1:n.*342G>A | |
| ENST00000493660.5:n.393G>A | ||
| ENST00000577721.5:c.202G>A | ENSP00000462857.1:p.Ala68Thr | |
| ENST00000578044.5:c.202G>A | ENSP00000464511.1:p.Ala68Thr | |
| ENST00000578112.5:c.*209G>A | ENSP00000464501.1:n.*209G>A | |
| ENST00000578995.5:n.415G>A | ||
| ENST00000580419.5:c.307G>A | ENSP00000462475.1:p.Ala103Thr | |
| ENST00000580654.5:c.358G>A | ENSP00000464061.1:p.Ala120Thr | |
| NM_003079.4:c.412G>A | NP_003070.3:p.Ala138Thr | |
| NM_003079.5:c.412G>A MANE Select | NP_003070.3:p.Ala138Thr |