Canonical Allele Identifier:
CA12550502
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57112099 (MID)
Genomes Max Group AF
0.53763448 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148560956G>C , CM000669.2:g.148560956G>C | GRCh38 |
| NC_000007.13:g.148258048G>C , CM000669.1:g.148258048G>C | GRCh37 |
| NC_000007.12:g.147888981G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928099.1:n.300+7144C>G | ||
| XR_928100.1:n.433+7144C>G |