Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50818854C= , CM000668.2:g.50818854C= | GRCh38 |
| NC_000006.11:g.50786567C= , CM000668.1:g.50786567C= | GRCh37 |
| NC_000006.10:g.50894526C= | NCBI36 |
| NG_008438.1:g.5129C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344788.7:c.-71C= | ENSP00000342252.3:n.-71C= | |
| ENST00000393655.3:c.-38C= | ENSP00000377265.2:n.-38C= | |
| NM_003221.3:c.-38C= | NP_003212.2:n.-38C= | |
| XM_006715176.2:c.-38C= | XP_006715239.1:n.-38C= | |
| XM_011514834.1:c.-38C= | XP_011513136.1:n.-38C= | |
| XM_011514835.1:c.-38C= | XP_011513137.1:n.-38C= | |
| XM_011514836.1:c.-38C= | XP_011513138.1:n.-38C= | |
| XM_011514837.1:c.-38C= | XP_011513139.1:n.-38C= | |
| XM_011514837.2:c.-38C= | XP_011513139.1:n.-38C= | |
| XM_017011233.1:c.55C= | XP_016866722.1:p.Arg19= | |
| XM_017011234.1:c.19C= | XP_016866723.1:p.Arg7= | |
| XM_017011235.2:c.-38C= | XP_016866724.1:n.-38C= |