HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912279A>C , CM000674.2:g.4912279A>C | GRCh38 |
NC_000012.11:g.5021445A>C , CM000674.1:g.5021445A>C | GRCh37 |
NC_000012.10:g.4891706A>C | NCBI36 |
NG_011815.1:g.7373A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.901A>C MANE Select | ENSP00000371985.3:p.Arg301= | |
ENST00000543874.3:n.105+1807A>C | ||
ENST00000639306.1:c.739A>C | ENSP00000492506.1:p.Arg247= | |
ENST00000639680.1:c.76+13A>C | ||
ENST00000382545.3:c.901A>C | ENSP00000371985.3:p.Arg301= | |
ENST00000541095.1:n.105+1807A>C | ||
ENST00000543874.2:n.96+1807A>C | ||
NM_000217.2:c.901A>C | NP_000208.2:p.Arg301= | |
NM_000217.3:c.901A>C MANE Select | NP_000208.2:p.Arg301= |