Linked Data
ClinVar Variation Id:
638537
ClinVar RCV Id:
RCV000791220
dbSNP Id:
rs775903553
ExAC:
5:156890303 G / T
gnomAD v2:
5-156890303-G-T
gnomAD v3:
5-157463295-G-T
gnomAD v4:
5-157463295-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463295G>T , CM000667.2:g.157463295G>T | GRCh38 |
| NC_000005.9:g.156890303G>T , CM000667.1:g.156890303G>T | GRCh37 |
| NC_000005.8:g.156822881G>T | NCBI36 |
| NG_016626.1:g.8277G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.239G>T (NIPAL4) MANE Select | ENSP00000311687.8:p.Gly80Val | |
| ENST00000435489.7:c.239G>T (NIPAL4) | ENSP00000406456.3:p.Gly80Val | |
| ENST00000311946.7:c.425G>T (NIPAL4) | ENSP00000311687.7:p.Gly142Val | |
| ENST00000435489.6:c.425G>T (NIPAL4) | ENSP00000406456.2:p.Gly142Val | |
| ENST00000517951.5:c.*1741+24970C>A (ADAM19) | ENSP00000428376.1:n.*1741+24970C>A | |
| ENST00000519150.1:c.337G>T (NIPAL4) | ENSP00000430810.1:p.Ala113Ser | |
| ENST00000519946.1:n.453G>T (NIPAL4) | ||
| ENST00000521390.5:n.344G>T (NIPAL4) | ||
| NM_001099287.1:c.425G>T (NIPAL4) | NP_001092757.1:p.Gly142Val | |
| NM_001172292.1:c.425G>T (NIPAL4) | NP_001165763.1:p.Gly142Val | |
| XM_011534552.1:c.-71G>T (NIPAL4) | XP_011532854.1:n.-71G>T | |
| XM_024446043.1:c.-218G>T (NIPAL4) | XP_024301811.1:n.-218G>T | |
| NM_001099287.2:c.239G>T (NIPAL4) MANE Select | NP_001092757.2:p.Gly80Val |