Linked Data
ClinVar Variation Id:
1239840
ClinVar RCV Id:
RCV001637804
dbSNP Id:
rs3094214
gnomAD v2:
6-31085382-C-A
gnomAD v3:
6-31117605-C-A
gnomAD v4:
6-31117605-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31117605C>A , CM000668.2:g.31117605C>A | GRCh38 |
| NC_000006.11:g.31085382C>A , CM000668.1:g.31085382C>A | GRCh37 |
| NC_000006.10:g.31193361C>A | NCBI36 |
| NG_012192.1:g.7842G>T | |
| NG_021348.1:g.7775C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-229+2714C>A (PSORS1C1) MANE Select | ENSP00000259881.9:n.-229+2714C>A | |
| ENST00000376288.3:c.86-76G>T (CDSN) MANE Select | ENSP00000365465.2:n.86-76G>T | |
| ENST00000259881.9:c.-229+2714C>A (PSORS1C1) | ENSP00000259881.9:n.-229+2714C>A | |
| ENST00000376288.2:c.86-76G>T (CDSN) | ENSP00000365465.2:n.86-76G>T | |
| ENST00000467107.1:n.2612C>A (PSORS1C1) | ||
| ENST00000479581.5:n.61+2714C>A (PSORS1C1) | ||
| ENST00000548049.1:n.119+2714C>A (PSORS1C1) | ||
| ENST00000550838.1:n.58+2714C>A (PSORS1C1) | ||
| ENST00000552747.1:n.53+2714C>A (PSORS1C1) | ||
| NM_001264.4:c.86-76G>T (CDSN) | NP_001255.3:n.86-76G>T | |
| NM_014068.2:c.-229+2714C>A (PSORS1C1) | NP_054787.2:n.-229+2714C>A | |
| NM_001264.5:c.86-76G>T (CDSN) MANE Select | NP_001255.4:n.86-76G>T | |
| NM_014068.3:c.-229+2714C>A (PSORS1C1) MANE Select | NP_054787.2:n.-229+2714C>A |