Canonical Allele Identifier:
CA12262308
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71924314 (AFR)
Genomes Max Group AF
0.71924314 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.11943293T>G , CM000668.2:g.11943293T>G | GRCh38 |
| NC_000006.11:g.11943526T>G , CM000668.1:g.11943526T>G | GRCh37 |
| NC_000006.10:g.12051512T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001743976.1:n.348-8242T>G |