Canonical Allele Identifier:
CA13647588
Gene:
Linked Data
dbSNP Id:
rs2120991
gnomAD v2:
12-54270228-C-A
gnomAD v3:
12-53876444-C-A
gnomAD v4:
12-53876444-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53876444C>A , CM000674.2:g.53876444C>A | GRCh38 |
| NC_000012.11:g.54270228C>A , CM000674.1:g.54270228C>A | GRCh37 |
| NC_000012.10:g.52556495C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_001749153.1:n.375+1196C>A | ||
| XR_001749154.1:n.545+1196C>A | ||
| XR_002957415.1:n.452-19753C>A |