Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180248298C>G , CM000663.2:g.180248298C>G | GRCh38 |
| NC_000001.10:g.180217433C>G , CM000663.1:g.180217433C>G | GRCh37 |
| NC_000001.9:g.178484056C>G | NCBI36 |
| NG_008081.1:g.22992C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033343.4:c.90C>G MANE Select | NP_203129.1:p.Cys30Trp |
| ENST00000263726.4:c.90C>G MANE Select | ENSP00000263726.2:p.Cys30Trp |
| NM_033343.3:c.90C>G | NP_203129.1:p.Cys30Trp |
| ENST00000263726.3:c.90C>G | ENSP00000263726.2:p.Cys30Trp |
| ENST00000558139.1:n.322C>G | |
| ENST00000561113.1:c.14C>G | |
| XM_011510105.1:c.-94C>G | XP_011508407.1:n.-94C>G |
| XM_011510105.2:c.-94C>G | XP_011508407.1:n.-94C>G |
| XM_011510106.1:c.-94C>G | XP_011508408.1:n.-94C>G |
| XM_011510106.3:c.-94C>G | XP_011508408.1:n.-94C>G |