Linked Data
ClinVar Variation Id:
716865
dbSNP Id:
rs148393062
ExAC:
6:31084856 T / C
gnomAD v2:
6-31084856-T-C
gnomAD v3:
6-31117079-T-C
gnomAD v4:
6-31117079-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31117079T>C , CM000668.2:g.31117079T>C | GRCh38 |
| NC_000006.11:g.31084856T>C , CM000668.1:g.31084856T>C | GRCh37 |
| NC_000006.10:g.31192835T>C | NCBI36 |
| NG_012192.1:g.8368A>G | |
| NG_021348.1:g.7249T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-229+2188T>C (PSORS1C1) MANE Select | ENSP00000259881.9:n.-229+2188T>C | |
| ENST00000376288.3:c.536A>G (CDSN) MANE Select | ENSP00000365465.2:p.Asn179Ser | |
| ENST00000259881.9:c.-229+2188T>C (PSORS1C1) | ENSP00000259881.9:n.-229+2188T>C | |
| ENST00000376288.2:c.536A>G (CDSN) | ENSP00000365465.2:p.Asn179Ser | |
| ENST00000467107.1:n.2086T>C (PSORS1C1) | ||
| ENST00000479581.5:n.61+2188T>C (PSORS1C1) | ||
| ENST00000493289.1:n.68-11T>C (PSORS1C1) | ||
| ENST00000548049.1:n.119+2188T>C (PSORS1C1) | ||
| ENST00000550838.1:n.58+2188T>C (PSORS1C1) | ||
| ENST00000552747.1:n.53+2188T>C (PSORS1C1) | ||
| NM_001264.4:c.536A>G (CDSN) | NP_001255.3:p.Asn179Ser | |
| NM_014068.2:c.-229+2188T>C (PSORS1C1) | NP_054787.2:n.-229+2188T>C | |
| NM_001264.5:c.536A>G (CDSN) MANE Select | NP_001255.4:p.Asn179Ser | |
| NM_014068.3:c.-229+2188T>C (PSORS1C1) MANE Select | NP_054787.2:n.-229+2188T>C |