Canonical Allele Identifier:
CA11046360
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66952985 (SAS)
Genomes Max Group AF
0.66952985 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.221936980C>T , CM000664.2:g.221936980C>T | GRCh38 |
| NC_000002.11:g.222801699C>T , CM000664.1:g.222801699C>T | GRCh37 |
| NC_000002.10:g.222509943C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923944.1:n.184+23685G>A | ||
| XR_923944.2:n.195+23685G>A |