Linked Data
dbSNP Id:
rs779698516
ExAC:
6:50786586 A / G
gnomAD v2:
6-50786586-A-G
gnomAD v3:
6-50818873-A-G
gnomAD v4:
6-50818873-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50818873A>G , CM000668.2:g.50818873A>G | GRCh38 |
| NC_000006.11:g.50786586A>G , CM000668.1:g.50786586A>G | GRCh37 |
| NC_000006.10:g.50894545A>G | NCBI36 |
| NG_008438.1:g.5148A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393655.4:c.-19A>G MANE Select | ENSP00000377265.2:n.-19A>G | |
| ENST00000344788.7:c.-52A>G | ENSP00000342252.3:n.-52A>G | |
| ENST00000393655.3:c.-19A>G | ENSP00000377265.2:n.-19A>G | |
| NM_003221.3:c.-19A>G | NP_003212.2:n.-19A>G | |
| XM_006715176.2:c.-19A>G | XP_006715239.1:n.-19A>G | |
| XM_011514834.1:c.-19A>G | XP_011513136.1:n.-19A>G | |
| XM_011514835.1:c.-19A>G | XP_011513137.1:n.-19A>G | |
| XM_011514836.1:c.-19A>G | XP_011513138.1:n.-19A>G | |
| XM_011514837.1:c.-19A>G | XP_011513139.1:n.-19A>G | |
| XM_011514837.2:c.-19A>G | XP_011513139.1:n.-19A>G | |
| XM_017011233.1:c.74A>G | XP_016866722.1:p.Asp25Gly | |
| XM_017011234.1:c.38A>G | XP_016866723.1:p.Asp13Gly | |
| XM_017011235.2:c.-19A>G | XP_016866724.1:n.-19A>G | |
| NM_003221.4:c.-19A>G MANE Select | NP_003212.2:n.-19A>G |