Linked Data
ClinVar Variation Id:
2904122
ClinVar RCV Id:
RCV003729142
dbSNP Id:
rs190908366
ExAC:
5:156890160 C / A
gnomAD v2:
5-156890160-C-A
gnomAD v3:
5-157463152-C-A
gnomAD v4:
5-157463152-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463152C>A , CM000667.2:g.157463152C>A | GRCh38 |
| NC_000005.9:g.156890160C>A , CM000667.1:g.156890160C>A | GRCh37 |
| NC_000005.8:g.156822738C>A | NCBI36 |
| NG_016626.1:g.8134C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.96C>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Asp32Glu | |
| ENST00000435489.7:c.96C>A (NIPAL4) | ENSP00000406456.3:p.Asp32Glu | |
| ENST00000311946.7:c.282C>A (NIPAL4) | ENSP00000311687.7:p.Asp94Glu | |
| ENST00000435489.6:c.282C>A (NIPAL4) | ENSP00000406456.2:p.Asp94Glu | |
| ENST00000517951.5:c.*1741+25113G>T (ADAM19) | ENSP00000428376.1:n.*1741+25113G>T | |
| ENST00000519150.1:c.194C>A (NIPAL4) | ENSP00000430810.1:p.Thr65Asn | |
| ENST00000519946.1:n.310C>A (NIPAL4) | ||
| ENST00000521390.5:n.201C>A (NIPAL4) | ||
| NM_001099287.1:c.282C>A (NIPAL4) | NP_001092757.1:p.Asp94Glu | |
| NM_001172292.1:c.282C>A (NIPAL4) | NP_001165763.1:p.Asp94Glu | |
| XM_011534552.1:c.-214C>A (NIPAL4) | XP_011532854.1:n.-214C>A | |
| XM_024446043.1:c.-361C>A (NIPAL4) | XP_024301811.1:n.-361C>A | |
| NM_001099287.2:c.96C>A (NIPAL4) MANE Select | NP_001092757.2:p.Asp32Glu |