Linked Data
dbSNP Id:
rs1033212996
gnomAD v2:
6-31107050-C-T
gnomAD v3:
6-31139273-C-T
gnomAD v4:
6-31139273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31139273C>T , CM000668.2:g.31139273C>T | GRCh38 |
| NC_000006.11:g.31107050C>T , CM000668.1:g.31107050C>T | GRCh37 |
| NC_000006.10:g.31215029C>T | NCBI36 |
| NG_021348.1:g.29443C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.168-368C>T (PSORS1C1) MANE Select | ENSP00000259881.9:n.168-368C>T | |
| ENST00000259845.4:c.-247G>A (PSORS1C2) | ENSP00000259845.4:n.-247G>A | |
| ENST00000259881.9:c.168-368C>T (PSORS1C1) | ENSP00000259881.9:n.168-368C>T | |
| ENST00000479581.5:n.62-368C>T (PSORS1C1) | ||
| ENST00000481450.2:c.-22-368C>T (PSORS1C1) | ENSP00000447158.1:n.-22-368C>T | |
| ENST00000547221.1:c.24-368C>T (PSORS1C1) | ENSP00000449471.1:n.24-368C>T | |
| ENST00000552747.1:n.968C>T (PSORS1C1) | ||
| NM_014068.2:c.168-368C>T (PSORS1C1) | NP_054787.2:n.168-368C>T | |
| NM_014069.2:c.-247G>A (PSORS1C2) | NP_054788.2:n.-247G>A | |
| NM_014068.3:c.168-368C>T (PSORS1C1) MANE Select | NP_054787.2:n.168-368C>T |