Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123150104A>G , CM000672.2:g.123150104A>G | GRCh38 |
| NC_000010.10:g.124909620A>G , CM000672.1:g.124909620A>G | GRCh37 |
| NC_000010.9:g.124899610A>G | NCBI36 |
| NG_033794.1:g.861A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005519.2:c.803A>G MANE Select | NP_005510.1:p.Tyr268Cys |
| ENST00000339992.4:c.803A>G MANE Select | ENSP00000341108.3:p.Tyr268Cys |
| NM_005519.1:c.803A>G | NP_005510.1:p.Tyr268Cys |
| ENST00000339992.3:c.803A>G | ENSP00000341108.3:p.Tyr268Cys |
| XM_005269743.2:c.803A>G | XP_005269800.1:p.Tyr268Cys |
| XM_005269743.3:c.803A>G | XP_005269800.1:p.Tyr268Cys |