HGVS | Genome Assembly |
---|---|
NC_000011.10:g.6319447C>A , CM000673.2:g.6319447C>A | GRCh38 |
NC_000011.9:g.6340677C>A , CM000673.1:g.6340677C>A | GRCh37 |
NC_000011.8:g.6297253C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303927.4:c.502G>T MANE Select | ENSP00000307292.3:p.Glu168Ter | |
ENST00000303927.3:c.502G>T | ENSP00000307292.3:p.Glu168Ter | |
ENST00000524852.1:n.288G>T | ||
ENST00000530979.1:c.598G>T | ENSP00000432047.1:p.Glu200Ter | |
ENST00000532354.1:n.524G>T | ||
NM_145040.2:c.502G>T | NP_659477.2:p.Glu168Ter | |
XR_930997.1:n.720+1227C>A | ||
XR_001748106.1:n.58C>A | ||
XR_242848.4:n.307C>A | ||
NM_145040.3:c.502G>T MANE Select | NP_659477.2:p.Glu168Ter |