Canonical Allele Identifier:
CA13588344
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08181636 (NFE)
Genomes Max Group AF
0.08181636 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48027251A>G , CM000674.2:g.48027251A>G | GRCh38 |
| NC_000012.11:g.48421034A>G , CM000674.1:g.48421034A>G | GRCh37 |
| NC_000012.10:g.46707301A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_944904.1:n.227-2520A>G | ||
| XR_944908.1:n.168-2520A>G | ||
| XR_001749115.2:n.227-2520A>G | ||
| XR_001749116.2:n.168-2520A>G | ||
| XR_944904.2:n.227-2520A>G |