Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42686327C>T , CM000665.2:g.42686327C>T | GRCh38 |
| NC_000003.11:g.42727819C>T , CM000665.1:g.42727819C>T | GRCh37 |
| NC_000003.10:g.42702823C>T | NCBI36 |
| NG_033035.1:g.5809C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152393.4:c.709C>T MANE Select | NP_689606.2:p.Arg237Cys |
| ENST00000287777.5:c.709C>T MANE Select | ENSP00000287777.4:p.Arg237Cys |
| NM_152393.3:c.709C>T | NP_689606.2:p.Arg237Cys |
| ENST00000287777.4:c.709C>T | ENSP00000287777.4:p.Arg237Cys |
| XM_005264866.2:c.709C>T | XP_005264923.1:p.Arg237Cys |