Canonical Allele Identifier:
CA12720874
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79164381 (EAS)
Genomes Max Group AF
0.79164381 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31540605G>A , CM000670.2:g.31540605G>A | GRCh38 |
| NC_000008.10:g.31398121G>A , CM000670.1:g.31398121G>A | GRCh37 |
| NC_000008.9:g.31517663G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_949650.1:n.1528+449G>A | ||
| XR_001745704.1:n.1168+449G>A |