Linked Data
ClinVar Variation Id:
143095
dbSNP Id:
rs527236092
gnomAD v2:
17-74536225-T-C
gnomAD v4:
17-76540143-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76540143T>C , CM000679.2:g.76540143T>C | GRCh38 |
| NC_000017.10:g.74536225T>C , CM000679.1:g.74536225T>C | GRCh37 |
| NC_000017.9:g.72047820T>C | NCBI36 |
| NG_016702.1:g.17558T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592014.6:c.2T>C (PRCD) MANE Select | ENSP00000467661.1:p.Met1Thr | |
| ENST00000397633.7:n.46-362T>C (PRCD) | ||
| ENST00000465808.7:n.93-362T>C (PRCD) | ||
| ENST00000586148.1:c.2T>C (PRCD) | ENSP00000465932.1:p.Met1Thr | |
| ENST00000589145.1:c.-52-8452A>G (CYGB) | ENSP00000468559.1:n.-52-8452A>G | |
| ENST00000590555.5:n.445-362T>C (PRCD) | ||
| ENST00000592014.5:c.2T>C (PRCD) | ENSP00000467661.1:p.Met1Thr | |
| ENST00000592432.5:n.249-362T>C (PRCD) | ||
| NM_001077620.2:c.2T>C (PRCD) | NP_001071088.1:p.Met1Thr | |
| NR_033357.1:n.249-362T>C (PRCD) | ||
| XM_011524272.1:c.-52-8452A>G (CYGB) | XP_011522574.1:n.-52-8452A>G | |
| XM_011525184.1:c.125T>C (PRCD) | XP_011523486.1:p.Met42Thr | |
| XM_017024116.1:c.-52-8452A>G (CYGB) | XP_016879605.1:n.-52-8452A>G | |
| XM_017025013.1:c.2T>C (PRCD) | XP_016880502.1:p.Met1Thr | |
| XM_017025014.1:c.2T>C (PRCD) | XP_016880503.1:p.Met1Thr | |
| XM_017025015.1:c.2T>C (PRCD) | XP_016880504.1:p.Met1Thr | |
| NM_001077620.3:c.2T>C (PRCD) MANE Select | NP_001071088.1:p.Met1Thr | |
| NR_033357.2:n.249-362T>C (PRCD) |