HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011066C= , CM000682.2:g.46011066C= | GRCh38 |
NC_000020.10:g.44639705C= , CM000682.1:g.44639705C= | GRCh37 |
NC_000020.9:g.44073112C= | NCBI36 |
NG_011468.1:g.7159C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.649+16C= MANE Select | ENSP00000361405.3:n.649+16C= | |
NM_004994.2:c.649+16C= | NP_004985.2:n.649+16C= | |
NM_004994.3:c.649+16C= MANE Select | NP_004985.2:n.649+16C= |