Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.5693074A>G , CM000664.2:g.5693074A>G | GRCh38 |
| NC_000002.11:g.5833206A>G , CM000664.1:g.5833206A>G | GRCh37 |
| NC_000002.10:g.5750657A>G | NCBI36 |
| NG_050751.1:g.5408A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003108.4:c.353A>G MANE Select | NP_003099.1:p.Tyr118Cys |
| ENST00000322002.5:c.353A>G MANE Select | ENSP00000322568.3:p.Tyr118Cys |
| NM_003108.3:c.353A>G | NP_003099.1:p.Tyr118Cys |
| ENST00000322002.4:c.353A>G | ENSP00000322568.3:p.Tyr118Cys |