Canonical Allele Identifier:
CA15505491
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32402967 (EAS)
Genomes Max Group AF
0.32402967 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19009765G>A , CM000669.2:g.19009765G>A | GRCh38 |
| NC_000007.13:g.19049388G>A , CM000669.1:g.19049388G>A | GRCh37 |
| NC_000007.12:g.19015913G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_927080.1:n.265-8518C>T |