Linked Data
ClinVar Variation Id:
257434
dbSNP Id:
rs4704870
ExAC:
5:156899869 T / C
gnomAD v2:
5-156899869-T-C
gnomAD v3:
5-157472861-T-C
gnomAD v4:
5-157472861-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157472861T>C , CM000667.2:g.157472861T>C | GRCh38 |
| NC_000005.9:g.156899869T>C , CM000667.1:g.156899869T>C | GRCh37 |
| NC_000005.8:g.156832447T>C | NCBI36 |
| NG_016626.1:g.17843T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.1116T>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Val372= | |
| ENST00000435489.7:c.1059T>C (NIPAL4) | ENSP00000406456.3:p.Val353= | |
| ENST00000311946.7:c.1302T>C (NIPAL4) | ENSP00000311687.7:p.Val434= | |
| ENST00000435489.6:c.1245T>C (NIPAL4) | ENSP00000406456.2:p.Val415= | |
| ENST00000517951.5:c.*1741+15404A>G (ADAM19) | ENSP00000428376.1:n.*1741+15404A>G | |
| NM_001099287.1:c.1302T>C (NIPAL4) | NP_001092757.1:p.Val434= | |
| NM_001172292.1:c.1245T>C (NIPAL4) | NP_001165763.1:p.Val415= | |
| XM_011534552.1:c.807T>C (NIPAL4) | XP_011532854.1:p.Val269= | |
| XM_024446043.1:c.603T>C (NIPAL4) | XP_024301811.1:p.Val201= | |
| NM_001099287.2:c.1116T>C (NIPAL4) MANE Select | NP_001092757.2:p.Val372= |