Canonical Allele Identifier:
CA15365752
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92846336 (AFR)
Genomes Max Group AF
0.92846336 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.104734216A>G , CM000667.2:g.104734216A>G | GRCh38 |
| NC_000005.9:g.104069917A>G , CM000667.1:g.104069917A>G | GRCh37 |
| NC_000005.8:g.104097816A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948645.1:n.493+20607T>C | ||
| XR_948646.1:n.309+29064T>C | ||
| XR_948647.1:n.309+29064T>C |