Linked Data
ClinVar Variation Id:
638536
ClinVar RCV Id:
RCV000791219
dbSNP Id:
rs1581265715
gnomAD v4:
5-157463277-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463277T>A , CM000667.2:g.157463277T>A | GRCh38 |
| NC_000005.9:g.156890285T>A , CM000667.1:g.156890285T>A | GRCh37 |
| NC_000005.8:g.156822863T>A | NCBI36 |
| NG_016626.1:g.8259T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.221T>A (NIPAL4) MANE Select | ENSP00000311687.8:p.Val74Asp | |
| ENST00000435489.7:c.221T>A (NIPAL4) | ENSP00000406456.3:p.Val74Asp | |
| ENST00000311946.7:c.407T>A (NIPAL4) | ENSP00000311687.7:p.Val136Asp | |
| ENST00000435489.6:c.407T>A (NIPAL4) | ENSP00000406456.2:p.Val136Asp | |
| ENST00000517951.5:c.*1741+24988A>T (ADAM19) | ENSP00000428376.1:n.*1741+24988A>T | |
| ENST00000519150.1:c.319T>A (NIPAL4) | ENSP00000430810.1:p.Ser107Thr | |
| ENST00000519946.1:n.435T>A (NIPAL4) | ||
| ENST00000521390.5:n.326T>A (NIPAL4) | ||
| NM_001099287.1:c.407T>A (NIPAL4) | NP_001092757.1:p.Val136Asp | |
| NM_001172292.1:c.407T>A (NIPAL4) | NP_001165763.1:p.Val136Asp | |
| XM_011534552.1:c.-89T>A (NIPAL4) | XP_011532854.1:n.-89T>A | |
| XM_024446043.1:c.-236T>A (NIPAL4) | XP_024301811.1:n.-236T>A | |
| NM_001099287.2:c.221T>A (NIPAL4) MANE Select | NP_001092757.2:p.Val74Asp |