HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011587G>A , CM000682.2:g.46011587G>A | GRCh38 |
NC_000020.10:g.44640226G>A , CM000682.1:g.44640226G>A | GRCh37 |
NC_000020.9:g.44073633G>A | NCBI36 |
NG_011468.1:g.7680G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372330.3:c.837G>A MANE Select | ENSP00000361405.3:p.Gln279= | |
NM_004994.2:c.837G>A | NP_004985.2:p.Gln279= | |
NM_004994.3:c.837G>A MANE Select | NP_004985.2:p.Gln279= |