HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80591593G= , CM000677.2:g.80591593G= | GRCh38 |
NC_000015.9:g.80883934G= , CM000677.1:g.80883934G= | GRCh37 |
NC_000015.8:g.78670989G= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303329.9:c.1944G= MANE Select | ENSP00000307479.4:p.Gln648= | |
ENST00000303329.8:c.1944G= | ENSP00000307479.4:p.Gln648= | |
ENST00000527771.5:c.1911G= | ENSP00000453792.1:p.Gln637= | |
ENST00000533983.5:c.1911G= | ENSP00000453651.1:p.Gln637= | |
ENST00000610490.4:c.*242G= | ENSP00000483762.1:n.*242G= | |
ENST00000622346.4:c.1944G= | ENSP00000479393.1:p.Gln648= | |
NM_014862.3:c.1944G= | NP_055677.3:p.Gln648= | |
NM_014862.4:c.1944G= MANE Select | NP_055677.3:p.Gln648= |