Linked Data
dbSNP Id:
rs779008800
ExAC:
6:31084841 C / T
gnomAD v2:
6-31084841-C-T
gnomAD v3:
6-31117064-C-T
gnomAD v4:
6-31117064-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31117064C>T , CM000668.2:g.31117064C>T | GRCh38 |
| NC_000006.11:g.31084841C>T , CM000668.1:g.31084841C>T | GRCh37 |
| NC_000006.10:g.31192820C>T | NCBI36 |
| NG_012192.1:g.8383G>A | |
| NG_021348.1:g.7234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-229+2173C>T (PSORS1C1) MANE Select | ENSP00000259881.9:n.-229+2173C>T | |
| ENST00000376288.3:c.551G>A (CDSN) MANE Select | ENSP00000365465.2:p.Arg184His | |
| ENST00000259881.9:c.-229+2173C>T (PSORS1C1) | ENSP00000259881.9:n.-229+2173C>T | |
| ENST00000376288.2:c.551G>A (CDSN) | ENSP00000365465.2:p.Arg184His | |
| ENST00000467107.1:n.2071C>T (PSORS1C1) | ||
| ENST00000479581.5:n.61+2173C>T (PSORS1C1) | ||
| ENST00000493289.1:n.68-26C>T (PSORS1C1) | ||
| ENST00000548049.1:n.119+2173C>T (PSORS1C1) | ||
| ENST00000550838.1:n.58+2173C>T (PSORS1C1) | ||
| ENST00000552747.1:n.53+2173C>T (PSORS1C1) | ||
| NM_001264.4:c.551G>A (CDSN) | NP_001255.3:p.Arg184His | |
| NM_014068.2:c.-229+2173C>T (PSORS1C1) | NP_054787.2:n.-229+2173C>T | |
| NM_001264.5:c.551G>A (CDSN) MANE Select | NP_001255.4:p.Arg184His | |
| NM_014068.3:c.-229+2173C>T (PSORS1C1) MANE Select | NP_054787.2:n.-229+2173C>T |