Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.104856779C>A , CM000664.2:g.104856779C>A | GRCh38 |
| NC_000002.11:g.105473237C>A , CM000664.1:g.105473237C>A | GRCh37 |
| NC_000002.10:g.104839669C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006236.3:c.1269C>A MANE Select | NP_006227.1:p.Ser423Arg |
| ENST00000361360.4:c.1269C>A MANE Select | ENSP00000355001.2:p.Ser423Arg |
| NM_006236.1:c.1269C>A | NP_006227.1:p.Ser423Arg |
| NM_006236.2:c.1269C>A | NP_006227.1:p.Ser423Arg |
| ENST00000361360.2:c.1269C>A | ENSP00000355001.2:p.Ser423Arg |
| ENST00000674056.1:c.1269C>A | ENSP00000501036.1:p.Ser423Arg |