Linked Data
ClinVar Variation Id:
502418
dbSNP Id:
rs373733344
ExAC:
3:132416213 T / C
gnomAD v2:
3-132416213-T-C
gnomAD v3:
3-132697369-T-C
gnomAD v4:
3-132697369-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132697369T>C , CM000665.2:g.132697369T>C | GRCh38 |
| NC_000003.11:g.132416213T>C , CM000665.1:g.132416213T>C | GRCh37 |
| NC_000003.10:g.133898903T>C | NCBI36 |
| NG_008130.1:g.30064A>G | |
| NG_008130.2:g.30064A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.1594-7A>G (NPHP3) | ENSP00000508078.1:n.1594-7A>G | |
| ENST00000337331.10:c.1986-7A>G (NPHP3) MANE Select | ENSP00000338766.5:n.1986-7A>G | |
| ENST00000337331.9:c.1986-7A>G (NPHP3) | ENSP00000338766.5:n.1986-7A>G | |
| ENST00000465756.5:c.1594-7A>G (NPHP3) | ENSP00000419907.1:n.1594-7A>G | |
| ENST00000471702.2:c.1888-7A>G (NPHP3-ACAD11) | ENSP00000419763.1:n.1888-7A>G | |
| ENST00000490993.5:n.1664-7A>G (NPHP3) | ||
| NM_153240.4:c.1986-7A>G (NPHP3) | NP_694972.3:n.1986-7A>G | |
| NR_037804.1:n.1992-7A>G (NPHP3-ACAD11) | ||
| NM_153240.5:c.1986-7A>G (NPHP3) MANE Select | NP_694972.3:n.1986-7A>G |