Canonical Allele Identifier:
CA11196013
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45437419 (EAS)
Genomes Max Group AF
0.45437419 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120548864G>A , CM000664.2:g.120548864G>A | GRCh38 |
| NC_000002.11:g.121306440G>A , CM000664.1:g.121306440G>A | GRCh37 |
| NC_000002.10:g.121022910G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923262.1:n.1488-1527C>T | ||
| XR_001739680.2:n.1496-1527C>T | ||
| XR_001739681.2:n.2129-2105C>T | ||
| XR_001739682.1:n.1496-2105C>T | ||
| XR_002959417.1:n.1496-2105C>T |