HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40931759C>A , CM000677.2:g.40931759C>A | GRCh38 |
NC_000015.9:g.41223957C>A , CM000677.1:g.41223957C>A | GRCh37 |
NC_000015.8:g.39011249C>A | NCBI36 |
NG_046974.1:g.7427C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249749.7:c.651C>A MANE Select | ENSP00000249749.5:p.Cys217Ter | |
ENST00000249749.6:c.651C>A | ENSP00000249749.5:p.Cys217Ter | |
ENST00000559440.1:n.880C>A | ||
NM_019074.3:c.651C>A | NP_061947.1:p.Cys217Ter | |
NM_019074.4:c.651C>A MANE Select | NP_061947.1:p.Cys217Ter |