HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50915954C>A , CM000685.2:g.50915954C>A | GRCh38 |
NC_000023.10:g.50658954C>A , CM000685.1:g.50658954C>A | GRCh37 |
NC_000023.9:g.50675694C>A | NCBI36 |
NG_012894.1:g.10171C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.526C>A MANE Select | ENSP00000252677.3:p.Leu176Met | |
ENST00000252677.3:c.526C>A | ENSP00000252677.3:p.Leu176Met | |
NM_005448.2:c.526C>A MANE Select | NP_005439.2:p.Leu176Met |