Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50911009C>T , CM000685.2:g.50911009C>T | GRCh38 |
| NC_000023.10:g.50654009C>T , CM000685.1:g.50654009C>T | GRCh37 |
| NC_000023.9:g.50670749C>T | NCBI36 |
| NG_012894.1:g.5226C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005448.2:c.226C>T MANE Select | NP_005439.2:p.Arg76Cys |
| ENST00000252677.4:c.226C>T MANE Select | ENSP00000252677.3:p.Arg76Cys |
| ENST00000252677.3:c.226C>T | ENSP00000252677.3:p.Arg76Cys |