Canonical Allele Identifier:
CA13734550
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24424897 (SAS)
Genomes Max Group AF
0.24424897 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.24617944A>G , CM000674.2:g.24617944A>G | GRCh38 |
| NC_000012.11:g.24770878A>G , CM000674.1:g.24770878A>G | GRCh37 |
| NC_000012.10:g.24662145A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749046.1:n.425-134T>C |