HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582420C= , CM000673.2:g.47582420C= | GRCh38 |
NC_000011.9:g.47603972C= , CM000673.1:g.47603972C= | GRCh37 |
NC_000011.8:g.47560548C= | NCBI36 |
NG_011946.1:g.8411C= | |
NG_011946.2:g.8411C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263774.9:c.579C= MANE Select | ENSP00000263774.4:p.Phe193= | |
ENST00000531351.2:n.1774C= | ||
ENST00000677462.1:n.3053C= | ||
ENST00000678975.1:n.2836C= | ||
ENST00000263774.8:c.579C= | ENSP00000263774.4:p.Phe193= | |
ENST00000524568.1:n.682C= | ||
ENST00000525212.1:n.234C= | ||
ENST00000525378.5:n.517C= | ||
ENST00000527178.1:n.179C= | ||
ENST00000533507.5:n.1473C= | ||
NM_004551.2:c.579C= | NP_004542.1:p.Phe193= | |
NM_004551.3:c.579C= MANE Select | NP_004542.1:p.Phe193= |