Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81594016T= , CM000665.2:g.81594016T= | GRCh38 |
| NC_000003.11:g.81643167T= , CM000665.1:g.81643167T= | GRCh37 |
| NC_000003.10:g.81725857T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.1000A= MANE Select | NP_000149.4:p.Ile334= |
| ENST00000429644.7:c.1000A= MANE Select | ENSP00000410833.2:p.Ile334= |
| ENST00000429644.6:c.1000A= | ENSP00000410833.2:p.Ile334= |
| ENST00000489715.1:c.877A= | ENSP00000419638.1:p.Ile293= |