HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011062A= , CM000682.2:g.46011062A= | GRCh38 |
NC_000020.10:g.44639701A= , CM000682.1:g.44639701A= | GRCh37 |
NC_000020.9:g.44073108A= | NCBI36 |
NG_011468.1:g.7155A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.649+12A= MANE Select | ENSP00000361405.3:n.649+12A= | |
NM_004994.2:c.649+12A= | NP_004985.2:n.649+12A= | |
NM_004994.3:c.649+12A= MANE Select | NP_004985.2:n.649+12A= |