Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030433C>G , CM000663.2:g.94030433C>G | GRCh38 |
| NC_000001.10:g.94495989C>G , CM000663.1:g.94495989C>G | GRCh37 |
| NC_000001.9:g.94268577C>G | NCBI36 |
| NG_009073.1:g.95717G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4347G>C MANE Select | NP_000341.2:p.Trp1449Cys |
| ENST00000370225.4:c.4347G>C MANE Select | ENSP00000359245.3:p.Trp1449Cys |
| NM_000350.2:c.4347G>C | NP_000341.2:p.Trp1449Cys |
| ENST00000370225.3:c.4347G>C | ENSP00000359245.3:p.Trp1449Cys |
| ENST00000536513.5:c.723G>C | ENSP00000439707.2:p.Trp241Cys |