HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589895A>C , CM000663.2:g.161589895A>C | GRCh38 |
NC_000001.10:g.161559685A>C , CM000663.1:g.161559685A>C | GRCh37 |
NC_000001.9:g.159826309A>C | NCBI36 |
NG_011982.1:g.13557A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40864T>G | ENSP00000514363.1:n.41-40864T>G | |
ENST00000699403.1:c.61+40473T>G | ENSP00000514364.1:n.61+40473T>G | |
ENST00000465075.6:n.483+76A>C | ||
ENST00000466542.6:c.391+76A>C | ENSP00000426627.1:n.391+76A>C | |
ENST00000473530.6:n.572+76A>C | ||
ENST00000473712.6:n.413+76A>C | ||
ENST00000482226.2:n.370+76A>C | ||
ENST00000543859.5:c.388+76A>C | ENSP00000444663.2:n.388+76A>C | |
ENST00000611236.1:c.388+76A>C | ENSP00000480953.1:n.388+76A>C | |
NR_047648.1:n.490+76A>C |