HGVS | Genome Assembly |
---|---|
NC_000011.10:g.66560641C>G , CM000673.2:g.66560641C>G | GRCh38 |
NG_013304.2:g.18722C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513398.2:c.1746C>G MANE Select | ENSP00000426797.1:p.Ile582Met | |
ENST00000502692.5:c.1875C>G | ENSP00000422007.1:p.Ile625Met | |
ENST00000513398.1:c.1746C>G | ENSP00000426797.1:p.Ile582Met | |
NM_001104.3:c.1746C>G | NP_001095.2:p.Ile582Met | |
NM_001258371.2:c.1875C>G | NP_001245300.2:p.Ile625Met | |
NM_001104.4:c.1746C>G MANE Select | NP_001095.2:p.Ile582Met | |
NM_001258371.3:c.1875C>G | NP_001245300.2:p.Ile625Met |