COSMIC:
COSN19692300 (not active)
COSN19729312 (not active)
COSN19765521 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48075771 (NFE)
Genomes Max Group AF
0.47044389 (NFE)
Exomes Max Group AF
0.48117096 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142681306C>A , CM000670.2:g.142681306C>A | GRCh38 |
| NC_000008.10:g.143762724C>A , CM000670.1:g.143762724C>A | GRCh37 |
| NC_000008.9:g.143759726C>A | NCBI36 |
| NG_011722.2:g.5850C>A | |
| NG_011722.3:g.15999C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301258.5:c.26-21C>A (PSCA) MANE Select | ENSP00000301258.4:n.26-21C>A | |
| ENST00000301258.4:c.26-21C>A (PSCA) | ENSP00000301258.4:n.26-21C>A | |
| ENST00000505305.1:n.262-21C>A (PSCA) | ||
| ENST00000510969.1:n.249-21C>A (PSCA) | ||
| ENST00000513264.1:c.26-21C>A (PSCA) | ENSP00000426508.1:n.26-21C>A | |
| ENST00000585503.1:n.264+399G>T (JRK) | ||
| ENST00000587499.1:n.101-169G>T (JRK) | ||
| ENST00000587883.5:n.264+399G>T (JRK) | ||
| ENST00000591180.5:n.130+399G>T (JRK) | ||
| ENST00000591357.5:n.264+399G>T (JRK) | ||
| NM_005672.4:c.26-21C>A (PSCA) | NP_005663.2:n.26-21C>A | |
| NR_033343.1:n.262-21C>A (PSCA) | ||
| NM_005672.5:c.26-21C>A (PSCA) MANE Select | NP_005663.2:n.26-21C>A | |
| NR_033343.2:n.273-21C>A (PSCA) |