HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021260C= , CM000663.2:g.94021260C= | GRCh38 |
NC_000001.10:g.94486816C= , CM000663.1:g.94486816C= | GRCh37 |
NC_000001.9:g.94259404C= | NCBI36 |
NG_009073.1:g.104890G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.4998G= MANE Select | ENSP00000359245.3:p.Glu1666= | |
ENST00000370225.3:c.4998G= | ENSP00000359245.3:p.Glu1666= | |
ENST00000460514.1:n.492G= | ||
ENST00000470771.1:n.108G= | ||
ENST00000536513.5:c.1374G= | ENSP00000439707.2:p.Glu458= | |
NM_000350.2:c.4998G= | NP_000341.2:p.Glu1666= | |
NM_000350.3:c.4998G= MANE Select | NP_000341.2:p.Glu1666= |