HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454359G>A , CM000679.2:g.7454359G>A | GRCh38 |
NC_000017.10:g.7357678G>A , CM000679.1:g.7357678G>A | GRCh37 |
NC_000017.9:g.7298402G>A | NCBI36 |
NG_008026.1:g.14273G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.883G>A MANE Select | ENSP00000304290.2:p.Ala295Thr | |
ENST00000306071.6:c.883G>A | ENSP00000304290.2:p.Ala295Thr | |
ENST00000536404.6:c.667G>A | ENSP00000439209.2:p.Ala223Thr | |
ENST00000570557.5:c.546G>A | ||
ENST00000573209.1:n.1827G>A | ||
ENST00000576360.1:c.605-85G>A | ENSP00000459092.1:n.605-85G>A | |
NM_000747.2:c.883G>A | NP_000738.2:p.Ala295Thr | |
NM_000747.3:c.883G>A MANE Select | NP_000738.2:p.Ala295Thr |