Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29086914C>G , CM000668.2:g.29086914C>G | GRCh38 |
| NC_000006.11:g.29054691C>G , CM000668.1:g.29054691C>G | GRCh37 |
| NC_000006.10:g.29162670C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005226.2:c.335G>C MANE Select | NP_001005226.1:p.Cys112Ser |
| ENST00000377173.4:c.335G>C MANE Select | ENSP00000366378.2:p.Cys112Ser |
| ENST00000377173.3:c.335G>C | ENSP00000366378.2:p.Cys112Ser |