Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27094682G>A , CM000669.2:g.27094682G>A | GRCh38 |
| NC_000007.13:g.27134301G>A , CM000669.1:g.27134301G>A | GRCh37 |
| NC_000007.12:g.27100826G>A | NCBI36 |
| NG_011813.1:g.6325C>T | |
| NG_033087.1:g.3589G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005522.5:c.766C>T MANE Select | NP_005513.2:p.Arg256Cys |
| ENST00000643460.2:c.766C>T MANE Select | ENSP00000494260.2:p.Arg256Cys |
| NM_005522.4:c.766C>T | NP_005513.1:p.Arg256Cys |
| NM_153620.2:c.*149C>T | NP_705873.2:n.*149C>T |
| NM_153620.3:c.*149C>T | NP_705873.3:n.*149C>T |
| ENST00000343060.4:c.766C>T | ENSP00000343246.4:p.Arg256Cys |
| ENST00000355633.5:c.*149C>T | ENSP00000347851.5:n.*149C>T |