Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230274480C= , CM000663.2:g.230274480C= | GRCh38 |
| NC_000001.10:g.230410226C= , CM000663.1:g.230410226C= | GRCh37 |
| NC_000001.9:g.228476849C= | NCBI36 |
| NG_011854.1:g.212271C= | |
| NG_011854.2:g.221692C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004481.5:c.1476C= MANE Select | NP_004472.1:p.His492= |
| ENST00000366672.5:c.1476C= MANE Select | ENSP00000355632.4:p.His492= |
| NM_001291866.1:c.1362C= | NP_001278795.1:p.His454= |
| NM_001291866.2:c.1362C= | NP_001278795.1:p.His454= |
| NM_004481.4:c.1476C= | NP_004472.1:p.His492= |
| ENST00000366672.4:c.1476C= | ENSP00000355632.4:p.His492= |
| ENST00000485438.1:n.1128C= | |
| XM_011544154.1:c.1404C= | XP_011542456.1:p.His468= |
| XM_011544155.1:c.1275C= | XP_011542457.1:p.His425= |