Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42688196T>C , CM000665.2:g.42688196T>C | GRCh38 |
| NC_000003.11:g.42729688T>C , CM000665.1:g.42729688T>C | GRCh37 |
| NC_000003.10:g.42704692T>C | NCBI36 |
| NG_033035.1:g.7678T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.1207T>C MANE Select | ENSP00000287777.4:p.Cys403Arg | |
| ENST00000287777.4:c.1207T>C | ENSP00000287777.4:p.Cys403Arg | |
| NM_152393.3:c.1207T>C | NP_689606.2:p.Cys403Arg | |
| XM_005264866.2:c.1207T>C | XP_005264923.1:p.Cys403Arg | |
| NM_152393.4:c.1207T>C MANE Select | NP_689606.2:p.Cys403Arg |