Canonical Allele Identifier:
CA15376174
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47392327 (NFE)
Genomes Max Group AF
0.47392327 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126002782A>C , CM000667.2:g.126002782A>C | GRCh38 |
| NC_000005.9:g.125338475A>C , CM000667.1:g.125338475A>C | GRCh37 |
| NC_000005.8:g.125366374A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948737.1:n.565+3558T>G | ||
| XR_948738.1:n.497+5758T>G |