Linked Data
dbSNP Id:
rs2113659519
gnomAD v4:
5-157463300-T-C
MyVariant Identifiers:
chr5:g.156890308T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157463300T>C , CM000667.2:g.157463300T>C | GRCh38 |
| NC_000005.9:g.156890308T>C , CM000667.1:g.156890308T>C | GRCh37 |
| NC_000005.8:g.156822886T>C | NCBI36 |
| NG_016626.1:g.8282T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.244T>C (NIPAL4) MANE Select | ENSP00000311687.8:p.Leu82= | |
| ENST00000435489.7:c.244T>C (NIPAL4) | ENSP00000406456.3:p.Leu82= | |
| ENST00000311946.7:c.430T>C (NIPAL4) | ENSP00000311687.7:p.Leu144= | |
| ENST00000435489.6:c.430T>C (NIPAL4) | ENSP00000406456.2:p.Leu144= | |
| ENST00000517951.5:c.*1741+24965A>G (ADAM19) | ENSP00000428376.1:n.*1741+24965A>G | |
| ENST00000519150.1:c.342T>C (NIPAL4) | ENSP00000430810.1:p.Ser114= | |
| ENST00000519946.1:n.458T>C (NIPAL4) | ||
| ENST00000521390.5:n.349T>C (NIPAL4) | ||
| NM_001099287.1:c.430T>C (NIPAL4) | NP_001092757.1:p.Leu144= | |
| NM_001172292.1:c.430T>C (NIPAL4) | NP_001165763.1:p.Leu144= | |
| XM_011534552.1:c.-66T>C (NIPAL4) | XP_011532854.1:n.-66T>C | |
| XM_024446043.1:c.-213T>C (NIPAL4) | XP_024301811.1:n.-213T>C | |
| NM_001099287.2:c.244T>C (NIPAL4) MANE Select | NP_001092757.2:p.Leu82= |