Linked Data
dbSNP Id:
rs148095595
ExAC:
6:31106793 T / C
gnomAD v2:
6-31106793-T-C
gnomAD v3:
6-31139016-T-C
gnomAD v4:
6-31139016-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31139016T>C , CM000668.2:g.31139016T>C | GRCh38 |
| NC_000006.11:g.31106793T>C , CM000668.1:g.31106793T>C | GRCh37 |
| NC_000006.10:g.31214772T>C | NCBI36 |
| NG_021348.1:g.29186T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259845.5:c.11A>G (PSORS1C2) MANE Select | ENSP00000259845.4:p.Asn4Ser | |
| ENST00000259881.10:c.167+237T>C (PSORS1C1) MANE Select | ENSP00000259881.9:n.167+237T>C | |
| ENST00000259845.4:c.11A>G (PSORS1C2) | ENSP00000259845.4:p.Asn4Ser | |
| ENST00000259881.9:c.167+237T>C (PSORS1C1) | ENSP00000259881.9:n.167+237T>C | |
| ENST00000479581.5:n.62-625T>C (PSORS1C1) | ||
| ENST00000481450.2:c.-23+557T>C (PSORS1C1) | ENSP00000447158.1:n.-23+557T>C | |
| ENST00000547221.1:c.23+237T>C (PSORS1C1) | ENSP00000449471.1:n.23+237T>C | |
| ENST00000552747.1:n.711T>C (PSORS1C1) | ||
| NM_014068.2:c.167+237T>C (PSORS1C1) | NP_054787.2:n.167+237T>C | |
| NM_014069.2:c.11A>G (PSORS1C2) | NP_054788.2:p.Asn4Ser | |
| NM_014069.3:c.11A>G (PSORS1C2) MANE Select | NP_054788.2:p.Asn4Ser | |
| NM_014068.3:c.167+237T>C (PSORS1C1) MANE Select | NP_054787.2:n.167+237T>C |