Linked Data
ClinVar Variation Id:
262712
dbSNP Id:
rs886038737
gnomAD v2:
3-132438692-G-C
gnomAD v3:
3-132719848-G-C
gnomAD v4:
3-132719848-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132719848G>C , CM000665.2:g.132719848G>C | GRCh38 |
| NC_000003.11:g.132438692G>C , CM000665.1:g.132438692G>C | GRCh37 |
| NC_000003.10:g.133921382G>C | NCBI36 |
| NG_008130.1:g.7585C>G | |
| NG_008130.2:g.7585C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.100-18C>G (NPHP3) | ENSP00000508078.1:n.100-18C>G | |
| ENST00000684756.1:n.117-18C>G (NPHP3) | ||
| ENST00000337331.10:c.394-18C>G (NPHP3) MANE Select | ENSP00000338766.5:n.394-18C>G | |
| ENST00000337331.9:c.394-18C>G (NPHP3) | ENSP00000338766.5:n.394-18C>G | |
| ENST00000465756.5:c.100-18C>G (NPHP3) | ENSP00000419907.1:n.100-18C>G | |
| ENST00000469232.5:c.46-18C>G (NPHP3) | ENSP00000418664.1:n.46-18C>G | |
| ENST00000471145.1:n.34-18C>G (NPHP3) | ||
| ENST00000471702.2:c.394-18C>G (NPHP3-ACAD11) | ENSP00000419763.1:n.394-18C>G | |
| NM_153240.4:c.394-18C>G (NPHP3) | NP_694972.3:n.394-18C>G | |
| NR_037804.1:n.498-18C>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.394-18C>G (NPHP3) MANE Select | NP_694972.3:n.394-18C>G |