Linked Data
dbSNP Id:
rs1293029623
gnomAD v2:
5-156890304-C-T
gnomAD v3:
5-157463296-C-T
gnomAD v4:
5-157463296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463296C>T , CM000667.2:g.157463296C>T | GRCh38 |
| NC_000005.9:g.156890304C>T , CM000667.1:g.156890304C>T | GRCh37 |
| NC_000005.8:g.156822882C>T | NCBI36 |
| NG_016626.1:g.8278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.240C>T (NIPAL4) MANE Select | ENSP00000311687.8:p.Gly80= | |
| ENST00000435489.7:c.240C>T (NIPAL4) | ENSP00000406456.3:p.Gly80= | |
| ENST00000311946.7:c.426C>T (NIPAL4) | ENSP00000311687.7:p.Gly142= | |
| ENST00000435489.6:c.426C>T (NIPAL4) | ENSP00000406456.2:p.Gly142= | |
| ENST00000517951.5:c.*1741+24969G>A (ADAM19) | ENSP00000428376.1:n.*1741+24969G>A | |
| ENST00000519150.1:c.338C>T (NIPAL4) | ENSP00000430810.1:p.Ala113Val | |
| ENST00000519946.1:n.454C>T (NIPAL4) | ||
| ENST00000521390.5:n.345C>T (NIPAL4) | ||
| NM_001099287.1:c.426C>T (NIPAL4) | NP_001092757.1:p.Gly142= | |
| NM_001172292.1:c.426C>T (NIPAL4) | NP_001165763.1:p.Gly142= | |
| XM_011534552.1:c.-70C>T (NIPAL4) | XP_011532854.1:n.-70C>T | |
| XM_024446043.1:c.-217C>T (NIPAL4) | XP_024301811.1:n.-217C>T | |
| NM_001099287.2:c.240C>T (NIPAL4) MANE Select | NP_001092757.2:p.Gly80= |