HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455878G>C , CM000679.2:g.7455878G>C | GRCh38 |
NC_000017.10:g.7359197G>C , CM000679.1:g.7359197G>C | GRCh37 |
NC_000017.9:g.7299921G>C | NCBI36 |
NG_008026.1:g.15792G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1302G>C MANE Select | ENSP00000304290.2:p.Arg434= | |
ENST00000306071.6:c.1302G>C | ENSP00000304290.2:p.Arg434= | |
ENST00000536404.6:c.1086G>C | ENSP00000439209.2:p.Arg362= | |
ENST00000575379.1:c.-91G>C | ENSP00000461751.1:n.-91G>C | |
ENST00000576360.1:c.939G>C | ENSP00000459092.1:p.Arg313= | |
NM_000747.2:c.1302G>C | NP_000738.2:p.Arg434= | |
NM_000747.3:c.1302G>C MANE Select | NP_000738.2:p.Arg434= |