HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161589894C>G , CM000663.2:g.161589894C>G | GRCh38 |
NC_000001.10:g.161559684C>G , CM000663.1:g.161559684C>G | GRCh37 |
NC_000001.9:g.159826308C>G | NCBI36 |
NG_011982.1:g.13556C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699402.1:c.41-40863G>C | ENSP00000514363.1:n.41-40863G>C | |
ENST00000699403.1:c.61+40474G>C | ENSP00000514364.1:n.61+40474G>C | |
ENST00000465075.6:n.483+75C>G | ||
ENST00000466542.6:c.391+75C>G | ENSP00000426627.1:n.391+75C>G | |
ENST00000473530.6:n.572+75C>G | ||
ENST00000473712.6:n.413+75C>G | ||
ENST00000482226.2:n.370+75C>G | ||
ENST00000543859.5:c.388+75C>G | ENSP00000444663.2:n.388+75C>G | |
ENST00000611236.1:c.388+75C>G | ENSP00000480953.1:n.388+75C>G | |
NR_047648.1:n.490+75C>G |