Canonical Allele Identifier:
CA92831158
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45719203 (EAS)
Genomes Max Group AF
0.45719203 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.11501980G>A , CM000666.2:g.11501980G>A | GRCh38 |
| NC_000004.11:g.11503604G>A , CM000666.1:g.11503604G>A | GRCh37 |
| NC_000004.10:g.11112702G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741361.1:n.950+19134G>A |