Linked Data
ClinVar Variation Id:
352515
dbSNP Id:
rs540992129
ExAC:
5:156898783 G / T
gnomAD v2:
5-156898783-G-T
gnomAD v3:
5-157471775-G-T
gnomAD v4:
5-157471775-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471775G>T , CM000667.2:g.157471775G>T | GRCh38 |
| NC_000005.9:g.156898783G>T , CM000667.1:g.156898783G>T | GRCh37 |
| NC_000005.8:g.156831361G>T | NCBI36 |
| NG_016626.1:g.16757G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.544G>T (NIPAL4) MANE Select | ENSP00000311687.8:p.Val182Phe | |
| ENST00000435489.7:c.487G>T (NIPAL4) | ENSP00000406456.3:p.Val163Phe | |
| ENST00000311946.7:c.730G>T (NIPAL4) | ENSP00000311687.7:p.Val244Phe | |
| ENST00000435489.6:c.673G>T (NIPAL4) | ENSP00000406456.2:p.Val225Phe | |
| ENST00000517951.5:c.*1741+16490C>A (ADAM19) | ENSP00000428376.1:n.*1741+16490C>A | |
| ENST00000519150.1:c.642G>T (NIPAL4) | ENSP00000430810.1:n.642G>T | |
| NM_001099287.1:c.730G>T (NIPAL4) | NP_001092757.1:p.Val244Phe | |
| NM_001172292.1:c.673G>T (NIPAL4) | NP_001165763.1:p.Val225Phe | |
| XM_011534552.1:c.235G>T (NIPAL4) | XP_011532854.1:p.Val79Phe | |
| XM_024446043.1:c.31G>T (NIPAL4) | XP_024301811.1:p.Val11Phe | |
| NM_001099287.2:c.544G>T (NIPAL4) MANE Select | NP_001092757.2:p.Val182Phe |