HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455355G>C , CM000679.2:g.7455355G>C | GRCh38 |
NC_000017.10:g.7358674G>C , CM000679.1:g.7358674G>C | GRCh37 |
NC_000017.9:g.7299398G>C | NCBI36 |
NG_008026.1:g.15269G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.1116G>C MANE Select | ENSP00000304290.2:p.Glu372Asp | |
ENST00000306071.6:c.1116G>C | ENSP00000304290.2:p.Glu372Asp | |
ENST00000536404.6:c.900G>C | ENSP00000439209.2:p.Glu300Asp | |
ENST00000570557.5:c.779G>C | ||
ENST00000573209.1:n.2060G>C | ||
ENST00000576360.1:c.753G>C | ENSP00000459092.1:p.Glu251Asp | |
NM_000747.2:c.1116G>C | NP_000738.2:p.Glu372Asp | |
NM_000747.3:c.1116G>C MANE Select | NP_000738.2:p.Glu372Asp |