HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454410C>G , CM000679.2:g.7454410C>G | GRCh38 |
NC_000017.10:g.7357729C>G , CM000679.1:g.7357729C>G | GRCh37 |
NC_000017.9:g.7298453C>G | NCBI36 |
NG_008026.1:g.14324C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.934C>G MANE Select | ENSP00000304290.2:p.Leu312Val | |
ENST00000306071.6:c.934C>G | ENSP00000304290.2:p.Leu312Val | |
ENST00000536404.6:c.718C>G | ENSP00000439209.2:p.Leu240Val | |
ENST00000570557.5:c.597C>G | ||
ENST00000573209.1:n.1878C>G | ||
ENST00000576360.1:c.605-34C>G | ENSP00000459092.1:n.605-34C>G | |
NM_000747.2:c.934C>G | NP_000738.2:p.Leu312Val | |
NM_000747.3:c.934C>G MANE Select | NP_000738.2:p.Leu312Val |