Linked Data
dbSNP Id:
rs759376499
ExAC:
17:74536599 C / G
gnomAD v2:
17-74536599-C-G
gnomAD v4:
17-76540517-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76540517C>G , CM000679.2:g.76540517C>G | GRCh38 |
| NC_000017.10:g.74536599C>G , CM000679.1:g.74536599C>G | GRCh37 |
| NC_000017.9:g.72048194C>G | NCBI36 |
| NG_016702.1:g.17932C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592014.6:c.87C>G (PRCD) MANE Select | ENSP00000467661.1:p.Asp29Glu | |
| ENST00000397630.7:n.47C>G (PRCD) | ||
| ENST00000397633.7:n.58C>G (PRCD) | ||
| ENST00000465808.7:n.105C>G (PRCD) | ||
| ENST00000586148.1:c.87C>G (PRCD) | ENSP00000465932.1:p.Asp29Glu | |
| ENST00000589145.1:c.-52-8826G>C (CYGB) | ENSP00000468559.1:n.-52-8826G>C | |
| ENST00000590555.5:n.457C>G (PRCD) | ||
| ENST00000592014.5:c.87C>G (PRCD) | ENSP00000467661.1:p.Asp29Glu | |
| ENST00000592432.5:n.261C>G (PRCD) | ||
| NM_001077620.2:c.87C>G (PRCD) | NP_001071088.1:p.Asp29Glu | |
| NR_033357.1:n.261C>G (PRCD) | ||
| XM_011524272.1:c.-52-8826G>C (CYGB) | XP_011522574.1:n.-52-8826G>C | |
| XM_011525184.1:c.210C>G (PRCD) | XP_011523486.1:p.Asp70Glu | |
| XM_017024116.1:c.-52-8826G>C (CYGB) | XP_016879605.1:n.-52-8826G>C | |
| XM_017025013.1:c.87C>G (PRCD) | XP_016880502.1:p.Asp29Glu | |
| XM_017025014.1:c.87C>G (PRCD) | XP_016880503.1:p.Asp29Glu | |
| XM_017025015.1:c.87C>G (PRCD) | XP_016880504.1:p.Asp29Glu | |
| NM_001077620.3:c.87C>G (PRCD) MANE Select | NP_001071088.1:p.Asp29Glu | |
| NR_033357.2:n.261C>G (PRCD) |