Linked Data
ClinVar Variation Id:
321899
dbSNP Id:
rs779910932
ExAC:
17:1578996 G / A
gnomAD v2:
17-1578996-G-A
gnomAD v4:
17-1675702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1675702G>A , CM000679.2:g.1675702G>A | GRCh38 |
| NC_000017.10:g.1578996G>A , CM000679.1:g.1578996G>A | GRCh37 |
| NC_000017.9:g.1525746G>A | NCBI36 |
| NG_009118.1:g.14181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.2790C>T | ENSP00000460849.2:p.Ala930= | |
| ENST00000703538.1:c.*2513C>T | ENSP00000515361.1:n.*2513C>T | |
| ENST00000703540.1:c.2790C>T | ENSP00000515362.1:p.Ala930= | |
| ENST00000703541.1:c.2655C>T | ENSP00000515363.1:p.Ala885= | |
| ENST00000304992.11:c.2790C>T MANE Select | ENSP00000304350.6:p.Ala930= | |
| ENST00000304992.10:c.2790C>T | ENSP00000304350.6:p.Ala930= | |
| ENST00000572621.5:c.2790C>T | ENSP00000460348.1:p.Ala930= | |
| ENST00000577001.1:c.2625C>T | ENSP00000458151.1:p.Ala875= | |
| NM_006445.3:c.2790C>T | NP_006436.3:p.Ala930= | |
| XM_024450537.1:c.2790C>T | XP_024306305.1:p.Ala930= | |
| NM_006445.4:c.2790C>T MANE Select | NP_006436.3:p.Ala930= |