HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226569A= , CM000673.2:g.5226569A= | GRCh38 |
NC_000011.9:g.5247799A= , CM000673.1:g.5247799A= | GRCh37 |
NC_000011.8:g.5204375A= | NCBI36 |
NG_000007.3:g.71047T= | |
NG_059281.1:g.5503T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.315+8T= | ENSP00000494175.1:n.315+8T= | |
ENST00000335295.4:c.315+8T= MANE Select | ENSP00000333994.3:n.315+8T= | |
ENST00000475226.1:n.247+8T= | ||
ENST00000485743.1:n.374T= | ||
ENST00000633227.1:c.*131+8T= | ENSP00000488004.1:n.*131+8T= | |
NM_000518.4:c.315+8T= | NP_000509.1:n.315+8T= | |
NM_000518.5:c.315+8T= MANE Select | NP_000509.1:n.315+8T= |