Canonical Allele Identifier:
CA12198408
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45084886 (EAS)
Genomes Max Group AF
0.45084886 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.77457228G>A , CM000668.2:g.77457228G>A | GRCh38 |
| NC_000006.11:g.78166945G>A , CM000668.1:g.78166945G>A | GRCh37 |
| NC_000006.10:g.78223664G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942706.1:n.544+15795G>A | ||
| XR_942707.1:n.544+15795G>A | ||
| XR_942708.1:n.544+15795G>A | ||
| XR_942709.1:n.544+15795G>A | ||
| XR_942708.2:n.544+15795G>A |