Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81578000G>A , CM000665.2:g.81578000G>A | GRCh38 |
| NC_000003.11:g.81627151G>A , CM000665.1:g.81627151G>A | GRCh37 |
| NC_000003.10:g.81709841G>A | NCBI36 |
| NG_011810.1:g.188801C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.1543C>T MANE Select | NP_000149.4:p.Arg515Cys |
| ENST00000429644.7:c.1543C>T MANE Select | ENSP00000410833.2:p.Arg515Cys |
| NM_000158.3:c.1543C>T | NP_000149.3:p.Arg515Cys |
| ENST00000429644.6:c.1543C>T | ENSP00000410833.2:p.Arg515Cys |
| ENST00000489715.1:c.1420C>T | ENSP00000419638.1:p.Arg474Cys |