Linked Data
ClinVar Variation Id:
352527
ClinVar RCV Id:
RCV000338652
dbSNP Id:
rs181287300
gnomAD v2:
5-156900195-T-A
gnomAD v3:
5-157473187-T-A
gnomAD v4:
5-157473187-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157473187T>A , CM000667.2:g.157473187T>A | GRCh38 |
| NC_000005.9:g.156900195T>A , CM000667.1:g.156900195T>A | GRCh37 |
| NC_000005.8:g.156832773T>A | NCBI36 |
| NG_016626.1:g.18169T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.*227T>A (NIPAL4) MANE Select | ENSP00000311687.8:n.*227T>A | |
| ENST00000311946.7:c.*227T>A (NIPAL4) | ENSP00000311687.7:n.*227T>A | |
| ENST00000517951.5:c.*1741+15078A>T (ADAM19) | ENSP00000428376.1:n.*1741+15078A>T | |
| NM_001099287.1:c.*227T>A (NIPAL4) | NP_001092757.1:n.*227T>A | |
| NM_001172292.1:c.*227T>A (NIPAL4) | NP_001165763.1:n.*227T>A | |
| XM_011534552.1:c.*227T>A (NIPAL4) | XP_011532854.1:n.*227T>A | |
| XM_024446043.1:c.*227T>A (NIPAL4) | XP_024301811.1:n.*227T>A | |
| NM_001099287.2:c.*227T>A (NIPAL4) MANE Select | NP_001092757.2:n.*227T>A |