HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454401A>G , CM000679.2:g.7454401A>G | GRCh38 |
NC_000017.10:g.7357720A>G , CM000679.1:g.7357720A>G | GRCh37 |
NC_000017.9:g.7298444A>G | NCBI36 |
NG_008026.1:g.14315A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.925A>G MANE Select | ENSP00000304290.2:p.Ile309Val | |
ENST00000306071.6:c.925A>G | ENSP00000304290.2:p.Ile309Val | |
ENST00000536404.6:c.709A>G | ENSP00000439209.2:p.Ile237Val | |
ENST00000570557.5:c.588A>G | ||
ENST00000573209.1:n.1869A>G | ||
ENST00000576360.1:c.605-43A>G | ENSP00000459092.1:n.605-43A>G | |
NM_000747.2:c.925A>G | NP_000738.2:p.Ile309Val | |
NM_000747.3:c.925A>G MANE Select | NP_000738.2:p.Ile309Val |