Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648867A= , CM000665.2:g.81648867A= | GRCh38 |
| NC_000003.11:g.81698018A= , CM000665.1:g.81698018A= | GRCh37 |
| NC_000003.10:g.81780708A= | NCBI36 |
| NG_011810.1:g.117934T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.680T= MANE Select | ENSP00000410833.2:p.Ile227= | |
| ENST00000429644.6:c.680T= | ENSP00000410833.2:p.Ile227= | |
| ENST00000489715.1:c.557T= | ENSP00000419638.1:p.Ile186= | |
| ENST00000498468.1:n.208T= | ||
| NM_000158.3:c.680T= | NP_000149.3:p.Ile227= | |
| NM_000158.4:c.680T= MANE Select | NP_000149.4:p.Ile227= |