HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912503C>G , CM000674.2:g.4912503C>G | GRCh38 |
NC_000012.11:g.5021669C>G , CM000674.1:g.5021669C>G | GRCh37 |
NC_000012.10:g.4891930C>G | NCBI36 |
NG_011815.1:g.7597C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1125C>G MANE Select | ENSP00000371985.3:p.Tyr375Ter | |
ENST00000543874.3:n.105+2031C>G | ||
ENST00000639306.1:c.963C>G | ENSP00000492506.1:p.Tyr321Ter | |
ENST00000639680.1:c.76+237C>G | ||
ENST00000382545.3:c.1125C>G | ENSP00000371985.3:p.Tyr375Ter | |
ENST00000541095.1:n.105+2031C>G | ||
ENST00000543874.2:n.96+2031C>G | ||
NM_000217.2:c.1125C>G | NP_000208.2:p.Tyr375Ter | |
NM_000217.3:c.1125C>G MANE Select | NP_000208.2:p.Tyr375Ter |