HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80591663C= , CM000677.2:g.80591663C= | GRCh38 |
NC_000015.9:g.80884004C= , CM000677.1:g.80884004C= | GRCh37 |
NC_000015.8:g.78671059C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303329.9:c.2014C= MANE Select | ENSP00000307479.4:p.Gln672= | |
ENST00000303329.8:c.2014C= | ENSP00000307479.4:p.Gln672= | |
ENST00000527771.5:c.1981C= | ENSP00000453792.1:p.Gln661= | |
ENST00000533983.5:c.1981C= | ENSP00000453651.1:p.Gln661= | |
ENST00000610490.4:c.*312C= | ENSP00000483762.1:n.*312C= | |
ENST00000622346.4:c.2014C= | ENSP00000479393.1:p.Gln672= | |
NM_014862.3:c.2014C= | NP_055677.3:p.Gln672= | |
NM_014862.4:c.2014C= MANE Select | NP_055677.3:p.Gln672= |