Canonical Allele Identifier:
CA13722176
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67818052 (EAS)
Genomes Max Group AF
0.67818052 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.28075634G>A , CM000674.2:g.28075634G>A | GRCh38 |
| NC_000012.11:g.28228567G>A , CM000674.1:g.28228567G>A | GRCh37 |
| NC_000012.10:g.28119834G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931460.1:n.153+31472C>T | ||
| XR_931461.1:n.154-11747C>T | ||
| XR_931461.2:n.156-11747C>T |