HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226360G>A , CM000673.2:g.5226360G>A | GRCh38 |
NC_000011.9:g.5247590G>A , CM000673.1:g.5247590G>A | GRCh37 |
NC_000011.8:g.5204166G>A | NCBI36 |
NG_000007.3:g.71256C>T | |
NG_059281.1:g.5712C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.315+217C>T | ENSP00000494175.1:n.315+217C>T | |
ENST00000335295.4:c.315+217C>T MANE Select | ENSP00000333994.3:n.315+217C>T | |
ENST00000475226.1:n.247+217C>T | ||
ENST00000485743.1:n.583C>T | ||
ENST00000633227.1:c.*131+217C>T | ENSP00000488004.1:n.*131+217C>T | |
NM_000518.4:c.315+217C>T | NP_000509.1:n.315+217C>T | |
NM_000518.5:c.315+217C>T MANE Select | NP_000509.1:n.315+217C>T |