Canonical Allele Identifier:
CA13693087
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48816032 (MID)
Genomes Max Group AF
0.45250682 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93156525G>T , CM000674.2:g.93156525G>T | GRCh38 |
| NC_000012.11:g.93550301G>T , CM000674.1:g.93550301G>T | GRCh37 |
| NC_000012.10:g.92074432G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040096.1:n.427+59057C>A |