Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580823G>C , CM000664.2:g.31580823G>C | GRCh38 |
| NG_008365.1:g.5149C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000348.4:c.78C>G MANE Select | NP_000339.2:p.Tyr26Ter |
| ENST00000622030.2:c.78C>G MANE Select | ENSP00000477587.1:p.Tyr26Ter |
| NM_000348.3:c.78C>G | NP_000339.2:p.Tyr26Ter |
| ENST00000622030.1:c.78C>G | ENSP00000477587.1:p.Tyr26Ter |
| XM_011533068.1:c.78C>G | XP_011531370.1:p.Tyr26Ter |
| XM_011533070.1:c.27-47057C>G | XP_011531372.1:n.27-47057C>G |
| XM_011533071.1:c.27-47057C>G | XP_011531373.1:n.27-47057C>G |
| XM_011533072.1:c.27-47057C>G | XP_011531374.1:n.27-47057C>G |
| XM_011533072.2:c.27-47057C>G | XP_011531374.1:n.27-47057C>G |