HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454419A>G , CM000679.2:g.7454419A>G | GRCh38 |
NC_000017.10:g.7357738A>G , CM000679.1:g.7357738A>G | GRCh37 |
NC_000017.9:g.7298462A>G | NCBI36 |
NG_008026.1:g.14333A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.943A>G MANE Select | ENSP00000304290.2:p.Thr315Ala | |
ENST00000306071.6:c.943A>G | ENSP00000304290.2:p.Thr315Ala | |
ENST00000536404.6:c.727A>G | ENSP00000439209.2:p.Thr243Ala | |
ENST00000570557.5:c.606A>G | ||
ENST00000573209.1:n.1887A>G | ||
ENST00000576360.1:c.605-25A>G | ENSP00000459092.1:n.605-25A>G | |
NM_000747.2:c.943A>G | NP_000738.2:p.Thr315Ala | |
NM_000747.3:c.943A>G MANE Select | NP_000738.2:p.Thr315Ala |