Linked Data
dbSNP Id:
rs1265094
gnomAD v2:
6-31106893-A-G
gnomAD v3:
6-31139116-A-G
gnomAD v4:
6-31139116-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31139116A>G , CM000668.2:g.31139116A>G | GRCh38 |
| NC_000006.11:g.31106893A>G , CM000668.1:g.31106893A>G | GRCh37 |
| NC_000006.10:g.31214872A>G | NCBI36 |
| NG_021348.1:g.29286A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.167+337A>G (PSORS1C1) MANE Select | ENSP00000259881.9:n.167+337A>G | |
| ENST00000259845.4:c.-90T>C (PSORS1C2) | ENSP00000259845.4:n.-90T>C | |
| ENST00000259881.9:c.167+337A>G (PSORS1C1) | ENSP00000259881.9:n.167+337A>G | |
| ENST00000479581.5:n.62-525A>G (PSORS1C1) | ||
| ENST00000481450.2:c.-22-525A>G (PSORS1C1) | ENSP00000447158.1:n.-22-525A>G | |
| ENST00000547221.1:c.23+337A>G (PSORS1C1) | ENSP00000449471.1:n.23+337A>G | |
| ENST00000552747.1:n.811A>G (PSORS1C1) | ||
| NM_014068.2:c.167+337A>G (PSORS1C1) | NP_054787.2:n.167+337A>G | |
| NM_014069.2:c.-90T>C (PSORS1C2) | NP_054788.2:n.-90T>C | |
| NM_014068.3:c.167+337A>G (PSORS1C1) MANE Select | NP_054787.2:n.167+337A>G |