Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47612492C= , CM000668.2:g.47612492C= | GRCh38 |
| NC_000006.11:g.47580228C= , CM000668.1:g.47580228C= | GRCh37 |
| NC_000006.10:g.47688187C= | NCBI36 |
| NG_008878.1:g.139704C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012120.3:c.1834C= MANE Select | NP_036252.1:p.Arg612= |
| ENST00000359314.5:c.1834C= MANE Select | ENSP00000352264.5:p.Arg612= |
| NM_012120.2:c.1834C= | NP_036252.1:p.Arg612= |
| XM_005248976.1:c.1822C= | XP_005249033.1:p.Arg608= |
| XM_005248977.2:c.1814+3188C= | XP_005249034.1:n.1814+3188C= |
| XM_011514449.1:c.1687C= | XP_011512751.1:p.Arg563= |
| XM_011514449.2:c.1687C= | XP_011512751.1:p.Arg563= |