Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232486287A>G , CM000664.2:g.232486287A>G | GRCh38 |
| NC_000002.11:g.233350997A>G , CM000664.1:g.233350997A>G | GRCh37 |
| NC_000002.10:g.233059241A>G | NCBI36 |
| NG_034065.1:g.6573T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004826.4:c.367T>C MANE Select | NP_004817.2:p.Cys123Arg |
| ENST00000304546.6:c.367T>C MANE Select | ENSP00000302051.1:p.Cys123Arg |
| NM_001290787.1:c.367T>C | NP_001277716.1:p.Cys123Arg |
| NM_001290787.2:c.367T>C | NP_001277716.1:p.Cys123Arg |
| NM_004826.3:c.367T>C | NP_004817.2:p.Cys123Arg |
| ENST00000304546.5:c.367T>C | ENSP00000302051.1:p.Cys123Arg |
| ENST00000409941.1:c.367T>C | ENSP00000386333.1:p.Cys123Arg |
| ENST00000482346.1:n.571T>C |