Linked Data
ClinVar Variation Id:
372383
dbSNP Id:
rs370356566
ExAC:
5:156898741 G / A
gnomAD v2:
5-156898741-G-A
gnomAD v3:
5-157471733-G-A
gnomAD v4:
5-157471733-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471733G>A , CM000667.2:g.157471733G>A | GRCh38 |
| NC_000005.9:g.156898741G>A , CM000667.1:g.156898741G>A | GRCh37 |
| NC_000005.8:g.156831319G>A | NCBI36 |
| NG_016626.1:g.16715G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311946.8:c.502G>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Gly168Arg | |
| ENST00000435489.7:c.445G>A (NIPAL4) | ENSP00000406456.3:p.Gly149Arg | |
| ENST00000311946.7:c.688G>A (NIPAL4) | ENSP00000311687.7:p.Gly230Arg | |
| ENST00000435489.6:c.631G>A (NIPAL4) | ENSP00000406456.2:p.Gly211Arg | |
| ENST00000517951.5:c.*1741+16532C>T (ADAM19) | ENSP00000428376.1:n.*1741+16532C>T | |
| ENST00000519150.1:c.600G>A (NIPAL4) | ENSP00000430810.1:n.600G>A | |
| NM_001099287.1:c.688G>A (NIPAL4) | NP_001092757.1:p.Gly230Arg | |
| NM_001172292.1:c.631G>A (NIPAL4) | NP_001165763.1:p.Gly211Arg | |
| XM_011534552.1:c.193G>A (NIPAL4) | XP_011532854.1:p.Gly65Arg | |
| XM_024446043.1:c.-12G>A (NIPAL4) | XP_024301811.1:n.-12G>A | |
| NM_001099287.2:c.502G>A (NIPAL4) MANE Select | NP_001092757.2:p.Gly168Arg |