HGVS | Genome Assembly |
---|---|
NC_000005.10:g.76968612A>G , CM000667.2:g.76968612A>G | GRCh38 |
NC_000005.9:g.76264437A>G , CM000667.1:g.76264437A>G | GRCh37 |
NC_000005.8:g.76300193A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274368.9:c.812-116A>G MANE Select | ENSP00000274368.4:n.812-116A>G | |
ENST00000274368.8:c.812-116A>G | ENSP00000274368.4:n.812-116A>G | |
ENST00000503763.1:n.227-116A>G | ||
ENST00000514258.1:n.311+5152A>G | ||
NM_001882.3:c.812-116A>G | NP_001873.2:n.812-116A>G | |
XR_948235.1:n.1111+5152A>G | ||
XR_948235.3:n.1091+5152A>G | ||
NM_001882.4:c.812-116A>G MANE Select | NP_001873.2:n.812-116A>G |