Canonical Allele Identifier:
CA12952903
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57486332 (EAS)
Genomes Max Group AF
0.57486332 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27533986C>A , CM000671.2:g.27533986C>A | GRCh38 |
| NC_000009.11:g.27533984C>A , CM000671.1:g.27533984C>A | GRCh37 |
| NC_000009.10:g.27523984C>A | NCBI36 |
| NG_031977.2:g.44881G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956873.1:n.413-1727C>A |