Canonical Allele Identifier:
CA11931849
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89661935 (EAS)
Genomes Max Group AF
0.89661935 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.66487881T>C , CM000667.2:g.66487881T>C | GRCh38 |
| NC_000005.9:g.65783709T>C , CM000667.1:g.65783709T>C | GRCh37 |
| NC_000005.8:g.65819465T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948381.1:n.649-48955T>C |