Linked Data
ClinVar Variation Id:
325472
dbSNP Id:
rs375181336
ExAC:
17:74536272 C / T
gnomAD v2:
17-74536272-C-T
gnomAD v3:
17-76540190-C-T
gnomAD v4:
17-76540190-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76540190C>T , CM000679.2:g.76540190C>T | GRCh38 |
| NC_000017.10:g.74536272C>T , CM000679.1:g.74536272C>T | GRCh37 |
| NC_000017.9:g.72047867C>T | NCBI36 |
| NG_016702.1:g.17605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592014.6:c.49C>T (PRCD) MANE Select | ENSP00000467661.1:p.Arg17Cys | |
| ENST00000397633.7:n.46-315C>T (PRCD) | ||
| ENST00000465808.7:n.93-315C>T (PRCD) | ||
| ENST00000586148.1:c.49C>T (PRCD) | ENSP00000465932.1:p.Arg17Cys | |
| ENST00000589145.1:c.-52-8499G>A (CYGB) | ENSP00000468559.1:n.-52-8499G>A | |
| ENST00000590555.5:n.445-315C>T (PRCD) | ||
| ENST00000592014.5:c.49C>T (PRCD) | ENSP00000467661.1:p.Arg17Cys | |
| ENST00000592432.5:n.249-315C>T (PRCD) | ||
| NM_001077620.2:c.49C>T (PRCD) | NP_001071088.1:p.Arg17Cys | |
| NR_033357.1:n.249-315C>T (PRCD) | ||
| XM_011524272.1:c.-52-8499G>A (CYGB) | XP_011522574.1:n.-52-8499G>A | |
| XM_011525184.1:c.172C>T (PRCD) | XP_011523486.1:p.Arg58Cys | |
| XM_017024116.1:c.-52-8499G>A (CYGB) | XP_016879605.1:n.-52-8499G>A | |
| XM_017025013.1:c.49C>T (PRCD) | XP_016880502.1:p.Arg17Cys | |
| XM_017025014.1:c.49C>T (PRCD) | XP_016880503.1:p.Arg17Cys | |
| XM_017025015.1:c.49C>T (PRCD) | XP_016880504.1:p.Arg17Cys | |
| NM_001077620.3:c.49C>T (PRCD) MANE Select | NP_001071088.1:p.Arg17Cys | |
| NR_033357.2:n.249-315C>T (PRCD) |