gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31138491A>C , CM000668.2:g.31138491A>C | GRCh38 |
| NC_000006.11:g.31106268A>C , CM000668.1:g.31106268A>C | GRCh37 |
| NC_000006.10:g.31214247A>C | NCBI36 |
| NG_021348.1:g.28661A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259845.5:c.56-185T>G (PSORS1C2) MANE Select | ENSP00000259845.4:n.56-185T>G | |
| ENST00000259881.10:c.43+32A>C (PSORS1C1) MANE Select | ENSP00000259881.9:n.43+32A>C | |
| ENST00000259845.4:c.56-185T>G (PSORS1C2) | ENSP00000259845.4:n.56-185T>G | |
| ENST00000259881.9:c.43+32A>C (PSORS1C1) | ENSP00000259881.9:n.43+32A>C | |
| ENST00000479581.5:n.62-1150A>C (PSORS1C1) | ||
| ENST00000481450.2:c.-23+32A>C (PSORS1C1) | ENSP00000447158.1:n.-23+32A>C | |
| ENST00000547221.1:c.-102+32A>C (PSORS1C1) | ENSP00000449471.1:n.-102+32A>C | |
| ENST00000550838.1:n.292A>C (PSORS1C1) | ||
| ENST00000552747.1:n.186A>C (PSORS1C1) | ||
| NM_014068.2:c.43+32A>C (PSORS1C1) | NP_054787.2:n.43+32A>C | |
| NM_014069.2:c.56-185T>G (PSORS1C2) | NP_054788.2:n.56-185T>G | |
| NM_014069.3:c.56-185T>G (PSORS1C2) MANE Select | NP_054788.2:n.56-185T>G | |
| NM_014068.3:c.43+32A>C (PSORS1C1) MANE Select | NP_054787.2:n.43+32A>C |