HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226508C= , CM000673.2:g.5226508C= | GRCh38 |
NC_000011.9:g.5247738C= , CM000673.1:g.5247738C= | GRCh37 |
NC_000011.8:g.5204314C= | NCBI36 |
NG_000007.3:g.71108G= | |
NG_059281.1:g.5564G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.315+69G= | ENSP00000494175.1:n.315+69G= | |
ENST00000335295.4:c.315+69G= MANE Select | ENSP00000333994.3:n.315+69G= | |
ENST00000475226.1:n.247+69G= | ||
ENST00000485743.1:n.435G= | ||
ENST00000633227.1:c.*131+69G= | ENSP00000488004.1:n.*131+69G= | |
NM_000518.4:c.315+69G= | NP_000509.1:n.315+69G= | |
NM_000518.5:c.315+69G= MANE Select | NP_000509.1:n.315+69G= |