Canonical Allele Identifier:
CA47770307
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85345098 (AFR)
Genomes Max Group AF
0.85345098 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.53010182G>C , CM000664.2:g.53010182G>C | GRCh38 |
| NC_000002.11:g.53237320G>C , CM000664.1:g.53237320G>C | GRCh37 |
| NC_000002.10:g.53090824G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002959384.1:n.124-100158C>G |