Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705530A>C , CM000665.2:g.81705530A>C | GRCh38 |
| NC_000003.11:g.81754681A>C , CM000665.1:g.81754681A>C | GRCh37 |
| NC_000003.10:g.81837371A>C | NCBI36 |
| NG_011810.1:g.61271T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.227T>G MANE Select | ENSP00000410833.2:p.Phe76Cys | |
| ENST00000429644.6:c.227T>G | ENSP00000410833.2:p.Phe76Cys | |
| ENST00000489715.1:c.104T>G | ENSP00000419638.1:p.Phe35Cys | |
| NM_000158.3:c.227T>G | NP_000149.3:p.Phe76Cys | |
| NM_000158.4:c.227T>G MANE Select | NP_000149.4:p.Phe76Cys |