HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454386T>A , CM000679.2:g.7454386T>A | GRCh38 |
NC_000017.10:g.7357705T>A , CM000679.1:g.7357705T>A | GRCh37 |
NC_000017.9:g.7298429T>A | NCBI36 |
NG_008026.1:g.14300T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.910T>A MANE Select | ENSP00000304290.2:p.Ser304Thr | |
ENST00000306071.6:c.910T>A | ENSP00000304290.2:p.Ser304Thr | |
ENST00000536404.6:c.694T>A | ENSP00000439209.2:p.Ser232Thr | |
ENST00000570557.5:c.573T>A | ||
ENST00000573209.1:n.1854T>A | ||
ENST00000576360.1:c.605-58T>A | ENSP00000459092.1:n.605-58T>A | |
NM_000747.2:c.910T>A | NP_000738.2:p.Ser304Thr | |
NM_000747.3:c.910T>A MANE Select | NP_000738.2:p.Ser304Thr |