HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454410C= , CM000679.2:g.7454410C= | GRCh38 |
NC_000017.10:g.7357729C= , CM000679.1:g.7357729C= | GRCh37 |
NC_000017.9:g.7298453C= | NCBI36 |
NG_008026.1:g.14324C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.934C= MANE Select | ENSP00000304290.2:p.Leu312= | |
ENST00000306071.6:c.934C= | ENSP00000304290.2:p.Leu312= | |
ENST00000536404.6:c.718C= | ENSP00000439209.2:p.Leu240= | |
ENST00000570557.5:c.597C= | ||
ENST00000573209.1:n.1878C= | ||
ENST00000576360.1:c.605-34C= | ENSP00000459092.1:n.605-34C= | |
NM_000747.2:c.934C= | NP_000738.2:p.Leu312= | |
NM_000747.3:c.934C= MANE Select | NP_000738.2:p.Leu312= |