HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589968C= , CM000663.2:g.161589968C= | GRCh38 |
NC_000001.10:g.161559758C= , CM000663.1:g.161559758C= | GRCh37 |
NC_000001.9:g.159826382C= | NCBI36 |
NG_011982.1:g.13630C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40937G= | ENSP00000514363.1:n.41-40937G= | |
ENST00000699403.1:c.61+40400G= | ENSP00000514364.1:n.61+40400G= | |
ENST00000465075.6:n.484-113C= | ||
ENST00000466542.6:c.391+149C= | ENSP00000426627.1:n.391+149C= | |
ENST00000473530.6:n.572+149C= | ||
ENST00000473712.6:n.413+149C= | ||
ENST00000482226.2:n.370+149C= | ||
ENST00000543859.5:c.388+149C= | ENSP00000444663.2:n.388+149C= | |
ENST00000611236.1:c.388+149C= | ENSP00000480953.1:n.388+149C= | |
NR_047648.1:n.490+149C= |