gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004537 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00004288 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31117440T>A , CM000668.2:g.31117440T>A | GRCh38 |
| NC_000006.11:g.31085217T>A , CM000668.1:g.31085217T>A | GRCh37 |
| NC_000006.10:g.31193196T>A | NCBI36 |
| NG_012192.1:g.8007A>T | |
| NG_021348.1:g.7610T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-229+2549T>A (PSORS1C1) MANE Select | ENSP00000259881.9:n.-229+2549T>A | |
| ENST00000376288.3:c.175A>T (CDSN) MANE Select | ENSP00000365465.2:p.Lys59Ter | |
| ENST00000259881.9:c.-229+2549T>A (PSORS1C1) | ENSP00000259881.9:n.-229+2549T>A | |
| ENST00000376288.2:c.175A>T (CDSN) | ENSP00000365465.2:p.Lys59Ter | |
| ENST00000467107.1:n.2447T>A (PSORS1C1) | ||
| ENST00000479581.5:n.61+2549T>A (PSORS1C1) | ||
| ENST00000548049.1:n.119+2549T>A (PSORS1C1) | ||
| ENST00000550838.1:n.58+2549T>A (PSORS1C1) | ||
| ENST00000552747.1:n.53+2549T>A (PSORS1C1) | ||
| NM_001264.4:c.175A>T (CDSN) | NP_001255.3:p.Lys59Ter | |
| NM_014068.2:c.-229+2549T>A (PSORS1C1) | NP_054787.2:n.-229+2549T>A | |
| NM_001264.5:c.175A>T (CDSN) MANE Select | NP_001255.4:p.Lys59Ter | |
| NM_014068.3:c.-229+2549T>A (PSORS1C1) MANE Select | NP_054787.2:n.-229+2549T>A |