Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133766289A= , CM000665.2:g.133766289A= | GRCh38 |
| NC_000003.11:g.133485133A= , CM000665.1:g.133485133A= | GRCh37 |
| NC_000003.10:g.134967823A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001063.4:c.1342A= MANE Select | NP_001054.2:p.Ile448= |
| ENST00000402696.9:c.1342A= MANE Select | ENSP00000385834.3:p.Ile448= |
| NM_001354703.2:c.1210A= | NP_001341632.2:p.Ile404= |
| NM_001354704.2:c.961A= | NP_001341633.2:p.Ile321= |
| ENST00000402696.7:c.1342A= | ENSP00000385834.3:p.Ile448= |
| ENST00000461695.1:c.12A= | |
| XM_011513100.1:c.1342A= | XP_011511402.1:p.Ile448= |