Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128252071A>G , CM000669.2:g.128252071A>G | GRCh38 |
| NC_000007.13:g.127892124A>G , CM000669.1:g.127892124A>G | GRCh37 |
| NC_000007.12:g.127679360A>G | NCBI36 |
| NG_007450.1:g.15794A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000230.3:c.53A>G MANE Select | NP_000221.1:p.Tyr18Cys |
| ENST00000308868.5:c.53A>G MANE Select | ENSP00000312652.4:p.Tyr18Cys |
| NM_000230.2:c.53A>G | NP_000221.1:p.Tyr18Cys |
| ENST00000308868.4:c.53A>G | ENSP00000312652.4:p.Tyr18Cys |
| XM_005250340.3:c.53A>G | XP_005250397.1:p.Tyr18Cys |
| XM_005250340.5:c.53A>G | XP_005250397.1:p.Tyr18Cys |