Linked Data
dbSNP Id:
rs140236023
ExAC:
6:50786663 T / A
gnomAD v2:
6-50786663-T-A
gnomAD v3:
6-50818950-T-A
gnomAD v4:
6-50818950-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50818950T>A , CM000668.2:g.50818950T>A | GRCh38 |
| NC_000006.11:g.50786663T>A , CM000668.1:g.50786663T>A | GRCh37 |
| NC_000006.10:g.50894622T>A | NCBI36 |
| NG_008438.1:g.5225T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393655.4:c.59T>A MANE Select | ENSP00000377265.2:p.Val20Asp | |
| ENST00000344788.7:c.26T>A | ENSP00000342252.3:p.Val9Asp | |
| ENST00000393655.3:c.59T>A | ENSP00000377265.2:p.Val20Asp | |
| NM_003221.3:c.59T>A | NP_003212.2:p.Val20Asp | |
| XM_006715176.2:c.59T>A | XP_006715239.1:p.Val20Asp | |
| XM_011514834.1:c.59T>A | XP_011513136.1:p.Val20Asp | |
| XM_011514835.1:c.59T>A | XP_011513137.1:p.Val20Asp | |
| XM_011514836.1:c.59T>A | XP_011513138.1:p.Val20Asp | |
| XM_011514837.1:c.59T>A | XP_011513139.1:p.Val20Asp | |
| XM_011514837.2:c.59T>A | XP_011513139.1:p.Val20Asp | |
| XM_017011233.1:c.151T>A | XP_016866722.1:p.Ser51Thr | |
| XM_017011234.1:c.115T>A | XP_016866723.1:p.Ser39Thr | |
| XM_017011235.2:c.59T>A | XP_016866724.1:p.Val20Asp | |
| NM_003221.4:c.59T>A MANE Select | NP_003212.2:p.Val20Asp |