HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011598C>G , CM000682.2:g.46011598C>G | GRCh38 |
NC_000020.10:g.44640237C>G , CM000682.1:g.44640237C>G | GRCh37 |
NC_000020.9:g.44073644C>G | NCBI36 |
NG_011468.1:g.7691C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372330.3:c.848C>G MANE Select | ENSP00000361405.3:p.Ala283Gly | |
NM_004994.2:c.848C>G | NP_004985.2:p.Ala283Gly | |
NM_004994.3:c.848C>G MANE Select | NP_004985.2:p.Ala283Gly |