Linked Data
dbSNP Id:
rs1164858597
gnomAD v2:
3-132419125-C-T
gnomAD v3:
3-132700281-C-T
gnomAD v4:
3-132700281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132700281C>T , CM000665.2:g.132700281C>T | GRCh38 |
| NC_000003.11:g.132419125C>T , CM000665.1:g.132419125C>T | GRCh37 |
| NC_000003.10:g.133901815C>T | NCBI36 |
| NG_008130.1:g.27152G>A | |
| NG_008130.2:g.27152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.1449+53G>A (NPHP3) | ENSP00000508078.1:n.1449+53G>A | |
| ENST00000337331.10:c.1743+53G>A (NPHP3) MANE Select | ENSP00000338766.5:n.1743+53G>A | |
| ENST00000337331.9:c.1743+53G>A (NPHP3) | ENSP00000338766.5:n.1743+53G>A | |
| ENST00000465756.5:c.1449+53G>A (NPHP3) | ENSP00000419907.1:n.1449+53G>A | |
| ENST00000469232.5:c.1558+53G>A (NPHP3) | ENSP00000418664.1:n.1558+53G>A | |
| ENST00000471702.2:c.1743+53G>A (NPHP3-ACAD11) | ENSP00000419763.1:n.1743+53G>A | |
| ENST00000490993.5:n.1519+53G>A (NPHP3) | ||
| NM_153240.4:c.1743+53G>A (NPHP3) | NP_694972.3:n.1743+53G>A | |
| NR_037804.1:n.1847+53G>A (NPHP3-ACAD11) | ||
| NM_153240.5:c.1743+53G>A (NPHP3) MANE Select | NP_694972.3:n.1743+53G>A |