Canonical Allele Identifier:
CA13711430
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16045131 (EAS)
Genomes Max Group AF
0.16045131 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.82625409T>C , CM000674.2:g.82625409T>C | GRCh38 |
| NC_000012.11:g.83019188T>C , CM000674.1:g.83019188T>C | GRCh37 |
| NC_000012.10:g.81543319T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749145.1:n.225-1104T>C |