HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225614G= , CM000673.2:g.5225614G= | GRCh38 |
NC_000011.9:g.5246844G= , CM000673.1:g.5246844G= | GRCh37 |
NC_000011.8:g.5203420G= | NCBI36 |
NG_000007.3:g.72002C= | |
NG_059281.1:g.6458C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.428C= | ENSP00000494175.1:p.Ala143= | |
ENST00000335295.4:c.428C= MANE Select | ENSP00000333994.3:p.Ala143= | |
ENST00000633227.1:c.*244C= | ENSP00000488004.1:n.*244C= | |
NM_000518.4:c.428C= | NP_000509.1:p.Ala143= | |
NM_000518.5:c.428C= MANE Select | NP_000509.1:p.Ala143= |