Linked Data
ClinVar Variation Id:
1729
dbSNP Id:
rs199422216
ExAC:
5:156890311 C / T
gnomAD v2:
5-156890311-C-T
gnomAD v3:
5-157463303-C-T
gnomAD v4:
5-157463303-C-T
PubMed:
PMID:15317751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463303C>T , CM000667.2:g.157463303C>T | GRCh38 |
| NC_000005.9:g.156890311C>T , CM000667.1:g.156890311C>T | GRCh37 |
| NC_000005.8:g.156822889C>T | NCBI36 |
| NG_016626.1:g.8285C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.247C>T (NIPAL4) MANE Select | ENSP00000311687.8:p.Arg83Ter | |
| ENST00000435489.7:c.247C>T (NIPAL4) | ENSP00000406456.3:p.Arg83Ter | |
| ENST00000311946.7:c.433C>T (NIPAL4) | ENSP00000311687.7:p.Arg145Ter | |
| ENST00000435489.6:c.433C>T (NIPAL4) | ENSP00000406456.2:p.Arg145Ter | |
| ENST00000517951.5:c.*1741+24962G>A (ADAM19) | ENSP00000428376.1:n.*1741+24962G>A | |
| ENST00000519150.1:c.345C>T (NIPAL4) | ENSP00000430810.1:p.Cys115= | |
| ENST00000519946.1:n.461C>T (NIPAL4) | ||
| ENST00000521390.5:n.352C>T (NIPAL4) | ||
| NM_001099287.1:c.433C>T (NIPAL4) | NP_001092757.1:p.Arg145Ter | |
| NM_001172292.1:c.433C>T (NIPAL4) | NP_001165763.1:p.Arg145Ter | |
| XM_011534552.1:c.-63C>T (NIPAL4) | XP_011532854.1:n.-63C>T | |
| XM_024446043.1:c.-210C>T (NIPAL4) | XP_024301811.1:n.-210C>T | |
| NM_001099287.2:c.247C>T (NIPAL4) MANE Select | NP_001092757.2:p.Arg83Ter |