Revel Score:
ENST00000257860 (MANE Select)
0.300
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000128 (NFE)
Exomes Max Group AF
0.00000136 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49295621G>A , CM000674.2:g.49295621G>A | GRCh38 |
| NC_000012.11:g.49689404G>A , CM000674.1:g.49689404G>A | GRCh37 |
| NC_000012.10:g.47975671G>A | NCBI36 |
| NG_008354.1:g.5496G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257860.9:c.421G>A (PRPH) MANE Select | ENSP00000257860.4:p.Asp141Asn | |
| ENST00000257860.8:c.421G>A (PRPH) | ENSP00000257860.4:p.Asp141Asn | |
| ENST00000451891.4:c.100-18G>A (PRPH) | ENSP00000408897.4:n.100-18G>A | |
| NM_006262.3:c.421G>A (PRPH) | NP_006253.2:p.Asp141Asn | |
| NR_120449.1:n.2451C>T (TROAP-AS1) | ||
| XM_005269025.1:c.421G>A (PRPH) | XP_005269082.1:p.Asp141Asn | |
| XR_944623.1:n.609G>A (PRPH) | ||
| XM_005269025.2:c.421G>A (PRPH) | XP_005269082.1:p.Asp141Asn | |
| XR_944623.2:n.478G>A (PRPH) | ||
| NM_006262.4:c.421G>A (PRPH) MANE Select | NP_006253.2:p.Asp141Asn |