Linked Data
ClinVar Variation Id:
704509
ClinVar RCV Id:
RCV000874560
dbSNP Id:
rs2294008
ExAC:
8:143761931 C / T
gnomAD v2:
8-143761931-C-T
gnomAD v3:
8-142680513-C-T
gnomAD v4:
8-142680513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142680513C>T , CM000670.2:g.142680513C>T | GRCh38 |
| NC_000008.10:g.143761931C>T , CM000670.1:g.143761931C>T | GRCh37 |
| NC_000008.9:g.143758933C>T | NCBI36 |
| NG_011722.2:g.5057C>T | |
| NG_011722.3:g.15206C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301258.5:c.-26C>T (PSCA) MANE Select | ENSP00000301258.4:n.-26C>T | |
| ENST00000301258.4:c.-26C>T (PSCA) | ENSP00000301258.4:n.-26C>T | |
| ENST00000505305.1:n.262-814C>T (PSCA) | ||
| ENST00000510969.1:n.249-814C>T (PSCA) | ||
| ENST00000513264.1:c.-26C>T (PSCA) | ENSP00000426508.1:n.-26C>T | |
| ENST00000585503.1:n.636G>A (JRK) | ||
| ENST00000587499.1:n.725G>A (JRK) | ||
| ENST00000587883.5:n.264+1192G>A (JRK) | ||
| ENST00000591180.5:n.130+1192G>A (JRK) | ||
| ENST00000591357.5:n.264+1192G>A (JRK) | ||
| NM_005672.4:c.-26C>T (PSCA) | NP_005663.2:n.-26C>T | |
| NR_033343.1:n.262-814C>T (PSCA) | ||
| NM_005672.5:c.-26C>T (PSCA) MANE Select | NP_005663.2:n.-26C>T | |
| NR_033343.2:n.273-814C>T (PSCA) |