ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6979029 (EAS)
Genomes Max Group AF
0.71079198 (EAS)
Exomes Max Group AF
0.69414762 (EAS)
Revel Score:
ENST00000435489
0.125
ENST00000311946 (MANE Select)
0.125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471682A>G , CM000667.2:g.157471682A>G | GRCh38 |
| NC_000005.9:g.156898690A>G , CM000667.1:g.156898690A>G | GRCh37 |
| NC_000005.8:g.156831268A>G | NCBI36 |
| NG_016626.1:g.16664A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.451A>G (NIPAL4) MANE Select | ENSP00000311687.8:p.Arg151Gly | |
| ENST00000435489.7:c.394A>G (NIPAL4) | ENSP00000406456.3:p.Arg132Gly | |
| ENST00000311946.7:c.637A>G (NIPAL4) | ENSP00000311687.7:p.Arg213Gly | |
| ENST00000435489.6:c.580A>G (NIPAL4) | ENSP00000406456.2:p.Arg194Gly | |
| ENST00000517951.5:c.*1741+16583T>C (ADAM19) | ENSP00000428376.1:n.*1741+16583T>C | |
| ENST00000519150.1:c.549A>G (NIPAL4) | ENSP00000430810.1:n.549A>G | |
| NM_001099287.1:c.637A>G (NIPAL4) | NP_001092757.1:p.Arg213Gly | |
| NM_001172292.1:c.580A>G (NIPAL4) | NP_001165763.1:p.Arg194Gly | |
| XM_011534552.1:c.142A>G (NIPAL4) | XP_011532854.1:p.Arg48Gly | |
| XM_024446043.1:c.-63A>G (NIPAL4) | XP_024301811.1:n.-63A>G | |
| NM_001099287.2:c.451A>G (NIPAL4) MANE Select | NP_001092757.2:p.Arg151Gly |