HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157471684G>A , CM000667.2:g.157471684G>A | GRCh38 |
NC_000005.9:g.156898692G>A , CM000667.1:g.156898692G>A | GRCh37 |
NC_000005.8:g.156831270G>A | NCBI36 |
NG_016626.1:g.16666G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311946.8:c.453G>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Arg151= | |
ENST00000435489.7:c.396G>A (NIPAL4) | ENSP00000406456.3:p.Arg132= | |
ENST00000311946.7:c.639G>A (NIPAL4) | ENSP00000311687.7:p.Arg213= | |
ENST00000435489.6:c.582G>A (NIPAL4) | ENSP00000406456.2:p.Arg194= | |
ENST00000517951.5:c.*1741+16581C>T (ADAM19) | ENSP00000428376.1:n.*1741+16581C>T | |
ENST00000519150.1:c.551G>A (NIPAL4) | ENSP00000430810.1:n.551G>A | |
NM_001099287.1:c.639G>A (NIPAL4) | NP_001092757.1:p.Arg213= | |
NM_001172292.1:c.582G>A (NIPAL4) | NP_001165763.1:p.Arg194= | |
XM_011534552.1:c.144G>A (NIPAL4) | XP_011532854.1:p.Arg48= | |
XM_024446043.1:c.-61G>A (NIPAL4) | XP_024301811.1:n.-61G>A | |
NM_001099287.2:c.453G>A (NIPAL4) MANE Select | NP_001092757.2:p.Arg151= |