HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47582268C= , CM000673.2:g.47582268C= | GRCh38 |
NC_000011.9:g.47603820C= , CM000673.1:g.47603820C= | GRCh37 |
NC_000011.8:g.47560396C= | NCBI36 |
NG_011946.1:g.8259C= | |
NG_011946.2:g.8259C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263774.9:c.507+55C= MANE Select | ENSP00000263774.4:n.507+55C= | |
ENST00000531351.2:n.1622C= | ||
ENST00000677462.1:n.2981+55C= | ||
ENST00000678975.1:n.2764+55C= | ||
ENST00000263774.8:c.507+55C= | ENSP00000263774.4:n.507+55C= | |
ENST00000524568.1:n.610+55C= | ||
ENST00000525212.1:n.162+55C= | ||
ENST00000525378.5:n.445+55C= | ||
ENST00000527178.1:n.27C= | ||
ENST00000533507.5:n.1401+55C= | ||
NM_004551.2:c.507+55C= | NP_004542.1:n.507+55C= | |
NM_004551.3:c.507+55C= MANE Select | NP_004542.1:n.507+55C= |