Linked Data
dbSNP Id:
rs2108007421
gnomAD v4:
3-132721954-C-G
MyVariant Identifiers:
chr3:g.132440798C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132721954C>G , CM000665.2:g.132721954C>G | GRCh38 |
| NC_000003.11:g.132440798C>G , CM000665.1:g.132440798C>G | GRCh37 |
| NC_000003.10:g.133923488C>G | NCBI36 |
| NG_008130.1:g.5479G>C | |
| NG_008130.2:g.5479G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683570.1:c.402G>C (NPHP3) | ENSP00000508409.1:p.Pro134= | |
| ENST00000684294.1:c.99+303G>C (NPHP3) | ENSP00000508078.1:n.99+303G>C | |
| ENST00000684756.1:n.116+9G>C (NPHP3) | ||
| ENST00000337331.10:c.393+9G>C (NPHP3) MANE Select | ENSP00000338766.5:n.393+9G>C | |
| ENST00000337331.9:c.393+9G>C (NPHP3) | ENSP00000338766.5:n.393+9G>C | |
| ENST00000383282.3:c.393+9G>C (NPHP3-ACAD11) | ENSP00000372769.2:n.393+9G>C | |
| ENST00000465756.5:c.99+303G>C (NPHP3) | ENSP00000419907.1:n.99+303G>C | |
| ENST00000469232.5:c.45+9G>C (NPHP3) | ENSP00000418664.1:n.45+9G>C | |
| ENST00000471702.2:c.393+9G>C (NPHP3-ACAD11) | ENSP00000419763.1:n.393+9G>C | |
| NM_153240.4:c.393+9G>C (NPHP3) | NP_694972.3:n.393+9G>C | |
| NR_037804.1:n.497+9G>C (NPHP3-ACAD11) | ||
| NR_002811.2:n.205C>G (NPHP3-AS1) | ||
| NR_152743.1:n.205C>G (NPHP3-AS1) | ||
| NM_153240.5:c.393+9G>C (NPHP3) MANE Select | NP_694972.3:n.393+9G>C |