Linked Data
dbSNP Id:
rs766625954
ExAC:
5:156890111 T / C
gnomAD v2:
5-156890111-T-C
gnomAD v4:
5-157463103-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463103T>C , CM000667.2:g.157463103T>C | GRCh38 |
| NC_000005.9:g.156890111T>C , CM000667.1:g.156890111T>C | GRCh37 |
| NC_000005.8:g.156822689T>C | NCBI36 |
| NG_016626.1:g.8085T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.47T>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Leu16Pro | |
| ENST00000435489.7:c.47T>C (NIPAL4) | ENSP00000406456.3:p.Leu16Pro | |
| ENST00000311946.7:c.233T>C (NIPAL4) | ENSP00000311687.7:p.Leu78Pro | |
| ENST00000435489.6:c.233T>C (NIPAL4) | ENSP00000406456.2:p.Leu78Pro | |
| ENST00000517951.5:c.*1741+25162A>G (ADAM19) | ENSP00000428376.1:n.*1741+25162A>G | |
| ENST00000519150.1:c.145T>C (NIPAL4) | ENSP00000430810.1:p.Ser49Pro | |
| ENST00000519946.1:n.261T>C (NIPAL4) | ||
| ENST00000521390.5:n.152T>C (NIPAL4) | ||
| NM_001099287.1:c.233T>C (NIPAL4) | NP_001092757.1:p.Leu78Pro | |
| NM_001172292.1:c.233T>C (NIPAL4) | NP_001165763.1:p.Leu78Pro | |
| XM_011534552.1:c.-263T>C (NIPAL4) | XP_011532854.1:n.-263T>C | |
| XM_024446043.1:c.-410T>C (NIPAL4) | XP_024301811.1:n.-410T>C | |
| NM_001099287.2:c.47T>C (NIPAL4) MANE Select | NP_001092757.2:p.Leu16Pro |