Linked Data
ClinVar Variation Id:
96509
ClinVar RCV Id:
RCV000082661
RCV000434124
RCV000987337
RCV001083406
RCV001148319
RCV001148320
RCV002294022
dbSNP Id:
rs145643112
ExAC:
3:132441046 C / T
gnomAD v2:
3-132441046-C-T
gnomAD v3:
3-132722202-C-T
gnomAD v4:
3-132722202-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132722202C>T , CM000665.2:g.132722202C>T | GRCh38 |
| NC_000003.11:g.132441046C>T , CM000665.1:g.132441046C>T | GRCh37 |
| NC_000003.10:g.133923736C>T | NCBI36 |
| NG_008130.1:g.5231G>A | |
| NG_008130.2:g.5231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683570.1:c.154G>A (NPHP3) | ENSP00000508409.1:p.Ala52Thr | |
| ENST00000684294.1:c.99+55G>A (NPHP3) | ENSP00000508078.1:n.99+55G>A | |
| ENST00000337331.10:c.154G>A (NPHP3) MANE Select | ENSP00000338766.5:p.Ala52Thr | |
| ENST00000337331.9:c.154G>A (NPHP3) | ENSP00000338766.5:p.Ala52Thr | |
| ENST00000383282.3:c.154G>A (NPHP3-ACAD11) | ENSP00000372769.2:p.Ala52Thr | |
| ENST00000465756.5:c.99+55G>A (NPHP3) | ENSP00000419907.1:n.99+55G>A | |
| ENST00000471702.2:c.154G>A (NPHP3-ACAD11) | ENSP00000419763.1:p.Ala52Thr | |
| NM_153240.4:c.154G>A (NPHP3) | NP_694972.3:p.Ala52Thr | |
| NR_037804.1:n.258G>A (NPHP3-ACAD11) | ||
| NR_002811.2:n.453C>T (NPHP3-AS1) | ||
| NR_152743.1:n.453C>T (NPHP3-AS1) | ||
| NM_153240.5:c.154G>A (NPHP3) MANE Select | NP_694972.3:p.Ala52Thr |