HGVS | Genome Assembly |
---|---|
NC_000010.11:g.5202332G>A , CM000672.2:g.5202332G>A | GRCh38 |
NC_000010.10:g.5244295G>A , CM000672.1:g.5244295G>A | GRCh37 |
NC_000010.9:g.5234295G>A | NCBI36 |
NG_031872.1:g.10498G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263126.3:c.252+1984G>A MANE Select | ENSP00000263126.1:n.252+1984G>A | |
ENST00000263126.2:c.252+1984G>A | ENSP00000263126.1:n.252+1984G>A | |
ENST00000380448.5:c.252+1984G>A | ENSP00000369814.1:n.252+1984G>A | |
NM_001818.3:c.252+1984G>A | NP_001809.3:n.252+1984G>A | |
XM_011519303.1:c.252+1984G>A | XP_011517605.1:n.252+1984G>A | |
NM_001818.4:c.252+1984G>A | NP_001809.3:n.252+1984G>A | |
NM_001818.5:c.252+1984G>A MANE Select | NP_001809.4:n.252+1984G>A |