HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80591654A>C , CM000677.2:g.80591654A>C | GRCh38 |
NC_000015.9:g.80883995A>C , CM000677.1:g.80883995A>C | GRCh37 |
NC_000015.8:g.78671050A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303329.9:c.2005A>C MANE Select | ENSP00000307479.4:p.Ser669Arg | |
ENST00000303329.8:c.2005A>C | ENSP00000307479.4:p.Ser669Arg | |
ENST00000527771.5:c.1972A>C | ENSP00000453792.1:p.Ser658Arg | |
ENST00000533983.5:c.1972A>C | ENSP00000453651.1:p.Ser658Arg | |
ENST00000610490.4:c.*303A>C | ENSP00000483762.1:n.*303A>C | |
ENST00000622346.4:c.2005A>C | ENSP00000479393.1:p.Ser669Arg | |
NM_014862.3:c.2005A>C | NP_055677.3:p.Ser669Arg | |
NM_014862.4:c.2005A>C MANE Select | NP_055677.3:p.Ser669Arg |