Linked Data
ClinVar Variation Id:
30269
ClinVar RCV Id:
RCV001725933
dbSNP Id:
rs387906841
ExAC:
6:31085217 T / A
gnomAD v2:
6-31085217-T-A
gnomAD v3:
6-31117440-T-A
gnomAD v4:
6-31117440-T-A
PubMed:
PMID:20691404
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 |