Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81578000G= , CM000665.2:g.81578000G= | GRCh38 |
| NC_000003.11:g.81627151G= , CM000665.1:g.81627151G= | GRCh37 |
| NC_000003.10:g.81709841G= | NCBI36 |
| NG_011810.1:g.188801C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.1543C= MANE Select | ENSP00000410833.2:p.Arg515= | |
| ENST00000429644.6:c.1543C= | ENSP00000410833.2:p.Arg515= | |
| ENST00000489715.1:c.1420C= | ENSP00000419638.1:p.Arg474= | |
| NM_000158.3:c.1543C= | NP_000149.3:p.Arg515= | |
| NM_000158.4:c.1543C= MANE Select | NP_000149.4:p.Arg515= |