HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33080796G>A , CM000668.2:g.33080796G>A | GRCh38 |
NC_000006.11:g.33048573G>A , CM000668.1:g.33048573G>A | GRCh37 |
NC_000006.10:g.33156551G>A | NCBI36 |
NG_033241.1:g.4983C>T | |
NG_033242.1:g.9871G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000418931.7:c.225G>A MANE Select | ENSP00000408146.2:p.Arg75= | |
ENST00000416804.1:c.125G>A | ||
ENST00000418931.6:c.225G>A | ENSP00000408146.2:p.Arg75= | |
ENST00000428835.5:c.156G>A | ENSP00000412654.1:p.Arg52= | |
ENST00000469120.1:n.257G>A | ||
ENST00000471184.5:n.274G>A | ||
ENST00000488575.1:n.274G>A | ||
ENST00000498038.1:n.354G>A | ||
NM_002121.5:c.225G>A | NP_002112.3:p.Arg75= | |
XM_006715078.2:c.-88G>A | XP_006715141.1:n.-88G>A | |
NM_002121.6:c.225G>A MANE Select | NP_002112.3:p.Arg75= |