Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890413C= , CM000668.2:g.131890413C= | GRCh38 |
| NC_000006.11:g.132211553C= , CM000668.1:g.132211553C= | GRCh37 |
| NC_000006.10:g.132253246C= | NCBI36 |
| NG_008206.1:g.87398C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1111C= | ||
| ENST00000647893.1:c.2680C= MANE Select | ENSP00000498074.1:p.His894= | |
| ENST00000360971.6:c.2680C= | ENSP00000354238.2:p.His894= | |
| ENST00000513998.5:c.*1517C= | ENSP00000422424.1:n.*1517C= | |
| NM_006208.2:c.2680C= | NP_006199.2:p.His894= | |
| XM_011535896.1:c.1570C= | XP_011534198.1:p.His524= | |
| NM_006208.3:c.2680C= MANE Select | NP_006199.2:p.His894= |