Linked Data
ClinVar Variation Id:
99806
dbSNP Id:
rs62637018
ExAC:
17:6329954 A / G
gnomAD v2:
17-6329954-A-G
gnomAD v3:
17-6426634-A-G
gnomAD v4:
17-6426634-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6426634A>G , CM000679.2:g.6426634A>G | GRCh38 |
| NC_000017.10:g.6329954A>G , CM000679.1:g.6329954A>G | GRCh37 |
| NC_000017.9:g.6270678A>G | NCBI36 |
| NG_008474.1:g.13566T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.765T>C MANE Select | ENSP00000370521.3:p.Asp255= | |
| ENST00000250087.9:c.576T>C | ENSP00000250087.5:p.Asp192= | |
| ENST00000381128.2:c.*637T>C | ENSP00000370520.2:n.*637T>C | |
| ENST00000381129.7:c.765T>C | ENSP00000370521.3:p.Asp255= | |
| ENST00000570466.5:c.699T>C | ENSP00000461287.1:p.Asp233= | |
| ENST00000570584.5:c.251+7285T>C | ||
| ENST00000571740.5:c.741T>C | ENSP00000460134.1:p.Asp247= | |
| ENST00000574506.5:c.729T>C | ENSP00000458456.1:p.Asp243= | |
| ENST00000575265.5:c.765T>C | ENSP00000459673.1:p.Asp255= | |
| ENST00000576307.5:c.585T>C | ENSP00000459522.1:p.Asp195= | |
| ENST00000576776.5:c.693T>C | ENSP00000460827.1:p.Asp231= | |
| ENST00000621374.4:c.765T>C | ENSP00000481337.1:p.Asp255= | |
| NM_001033054.2:c.576T>C | NP_001028226.1:p.Asp192= | |
| NM_001033055.2:c.585T>C | NP_001028227.1:p.Asp195= | |
| NM_001285399.2:c.729T>C | NP_001272328.1:p.Asp243= | |
| NM_001285400.2:c.699T>C | NP_001272329.1:p.Asp233= | |
| NM_001285401.2:c.693T>C | NP_001272330.1:p.Asp231= | |
| NM_001285402.1:c.648T>C | NP_001272331.1:p.Asp216= | |
| NM_001285403.2:c.741T>C | NP_001272332.1:p.Asp247= | |
| NM_014336.4:c.765T>C | NP_055151.3:p.Asp255= | |
| NM_001033054.3:c.576T>C | NP_001028226.1:p.Asp192= | |
| NM_001033055.3:c.585T>C | NP_001028227.1:p.Asp195= | |
| NM_001285399.3:c.729T>C | NP_001272328.1:p.Asp243= | |
| NM_001285400.3:c.699T>C | NP_001272329.1:p.Asp233= | |
| NM_001285401.3:c.693T>C | NP_001272330.1:p.Asp231= | |
| NM_001285402.2:c.648T>C | NP_001272331.1:p.Asp216= | |
| NM_001285403.3:c.741T>C | NP_001272332.1:p.Asp247= | |
| NM_014336.5:c.765T>C MANE Select | NP_055151.3:p.Asp255= | |
| NM_001285403.4:c.741T>C | NP_001272332.1:p.Asp247= |