gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69206055 (EAS)
Genomes Max Group AF
0.69834842 (EAS)
Exomes Max Group AF
0.63434239 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31117993G>A , CM000668.2:g.31117993G>A | GRCh38 |
| NC_000006.11:g.31085770G>A , CM000668.1:g.31085770G>A | GRCh37 |
| NC_000006.10:g.31193749G>A | NCBI36 |
| NG_012192.1:g.7454C>T | |
| NG_021348.1:g.8163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-229+3102G>A (PSORS1C1) MANE Select | ENSP00000259881.9:n.-229+3102G>A | |
| ENST00000376288.3:c.86-464C>T (CDSN) MANE Select | ENSP00000365465.2:n.86-464C>T | |
| ENST00000259881.9:c.-229+3102G>A (PSORS1C1) | ENSP00000259881.9:n.-229+3102G>A | |
| ENST00000376288.2:c.86-464C>T (CDSN) | ENSP00000365465.2:n.86-464C>T | |
| ENST00000467107.1:n.3000G>A (PSORS1C1) | ||
| ENST00000479581.5:n.61+3102G>A (PSORS1C1) | ||
| ENST00000548049.1:n.119+3102G>A (PSORS1C1) | ||
| ENST00000550838.1:n.58+3102G>A (PSORS1C1) | ||
| ENST00000552747.1:n.53+3102G>A (PSORS1C1) | ||
| NM_001264.4:c.86-464C>T (CDSN) | NP_001255.3:n.86-464C>T | |
| NM_014068.2:c.-229+3102G>A (PSORS1C1) | NP_054787.2:n.-229+3102G>A | |
| NM_001264.5:c.86-464C>T (CDSN) MANE Select | NP_001255.4:n.86-464C>T | |
| NM_014068.3:c.-229+3102G>A (PSORS1C1) MANE Select | NP_054787.2:n.-229+3102G>A |