HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44294510G>A , CM000683.2:g.44294510G>A | GRCh38 |
NC_000021.8:g.45714393G>A , CM000683.1:g.45714393G>A | GRCh37 |
NC_000021.7:g.44538821G>A | NCBI36 |
NG_009556.1:g.13631G>A , LRG_18:g.13631G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.1503+7G>A MANE Select | ENSP00000291582.5:n.1503+7G>A | |
ENST00000291582.5:c.1503+7G>A | ENSP00000291582.5:n.1503+7G>A | |
ENST00000337909.5:n.964+7G>A | ||
ENST00000397994.8:n.882+7G>A | ||
ENST00000527919.5:n.2262+7G>A | ||
ENST00000530812.5:n.3250+7G>A | ||
NM_000383.3:c.1503+7G>A | NP_000374.1:n.1503+7G>A | |
XM_011529551.1:c.1500+7G>A | XP_011527853.1:n.1500+7G>A | |
NM_000383.4:c.1503+7G>A MANE Select | NP_000374.1:n.1503+7G>A |