HGVS | Genome Assembly |
---|---|
NC_000017.11:g.56594607C>A , CM000679.2:g.56594607C>A | GRCh38 |
NC_000017.10:g.54671968C>A , CM000679.1:g.54671968C>A | GRCh37 |
NC_000017.9:g.52026967C>A | NCBI36 |
NG_011958.1:g.5909C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332822.6:c.384C>A MANE Select | ENSP00000328181.4:p.Gly128= | |
ENST00000332822.4:c.384C>A | ENSP00000328181.4:p.Gly128= | |
NM_005450.4:c.384C>A | NP_005441.1:p.Gly128= | |
NM_005450.6:c.384C>A MANE Select | NP_005441.1:p.Gly128= |