Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81577966A= , CM000665.2:g.81577966A= | GRCh38 |
| NC_000003.11:g.81627117A= , CM000665.1:g.81627117A= | GRCh37 |
| NC_000003.10:g.81709807A= | NCBI36 |
| NG_011810.1:g.188835T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1577T= MANE Select | ENSP00000410833.2:p.Ile526= | |
| ENST00000429644.6:c.1577T= | ENSP00000410833.2:p.Ile526= | |
| ENST00000489715.1:c.1454T= | ENSP00000419638.1:p.Ile485= | |
| NM_000158.3:c.1577T= | NP_000149.3:p.Ile526= | |
| NM_000158.4:c.1577T= MANE Select | NP_000149.4:p.Ile526= |