Canonical Allele Identifier:
CA12825573
Gene:
Linked Data
dbSNP Id:
rs2627282
gnomAD v2:
8-2780956-G-A
gnomAD v3:
8-2923434-G-A
gnomAD v4:
8-2923434-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2923434G>A , CM000670.2:g.2923434G>A | GRCh38 |
| NC_000008.10:g.2780956G>A , CM000670.1:g.2780956G>A | GRCh37 |
| NC_000008.9:g.2768363G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_941365.1:n.127+128C>T | ||
| XR_941367.1:n.212-2331G>A | ||
| XR_002956657.1:n.1002-2331G>A | ||
| XR_002956658.1:n.3030-2331G>A | ||
| NR_168441.1:n.1167-77571G>A | ||
| NR_168442.1:n.1698-2331G>A | ||
| NR_168443.1:n.1172-85134G>A | ||
| NR_168444.1:n.1167-66104G>A | ||
| NR_168445.1:n.1250-66104G>A |