Linked Data
ClinVar Variation Id:
66710
ClinVar RCV Id:
RCV000057161
dbSNP Id:
rs112146976
ExAC:
12:49691403 C / A
gnomAD v2:
12-49691403-C-A
gnomAD v3:
12-49297620-C-A
gnomAD v4:
12-49297620-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49297620C>A , CM000674.2:g.49297620C>A | GRCh38 |
| NC_000012.11:g.49691403C>A , CM000674.1:g.49691403C>A | GRCh37 |
| NC_000012.10:g.47977670C>A | NCBI36 |
| NG_008354.1:g.7495C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257860.9:c.1217+43C>A (PRPH) MANE Select | ENSP00000257860.4:n.1217+43C>A | |
| ENST00000257860.8:c.1217+43C>A (PRPH) | ENSP00000257860.4:n.1217+43C>A | |
| ENST00000530631.1:n.374+43C>A (PRPH) | ||
| ENST00000532332.2:c.402+43C>A (PRPH) | ||
| NM_006262.3:c.1217+43C>A (PRPH) | NP_006253.2:n.1217+43C>A | |
| NR_120449.1:n.583G>T (TROAP-AS1) | ||
| XM_005269025.1:c.1217+43C>A (PRPH) | XP_005269082.1:n.1217+43C>A | |
| XR_944623.1:n.1535+43C>A (PRPH) | ||
| XM_005269025.2:c.1217+43C>A (PRPH) | XP_005269082.1:n.1217+43C>A | |
| XR_944623.2:n.1404+43C>A (PRPH) | ||
| NM_006262.4:c.1217+43C>A (PRPH) MANE Select | NP_006253.2:n.1217+43C>A |