Canonical Allele Identifier:
CA12675057
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60981778 (EAS)
Genomes Max Group AF
0.60981778 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.110407414C>T , CM000669.2:g.110407414C>T | GRCh38 |
| NC_000007.13:g.110047471C>T , CM000669.1:g.110047471C>T | GRCh37 |
| NC_000007.12:g.109834707C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001744982.1:n.604+25397G>A | ||
| XR_927863.2:n.367+25397G>A |