Canonical Allele Identifier:
CA189884009
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93265265 (NFE)
Genomes Max Group AF
0.93265265 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12108916G>A , CM000671.2:g.12108916G>A | GRCh38 |
| NC_000009.11:g.12108916G>A , CM000671.1:g.12108916G>A | GRCh37 |
| NC_000009.10:g.12098916G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929481.1:n.166+7905C>T | ||
| XR_929482.1:n.260+7905C>T | ||
| XR_929481.2:n.166+7905C>T | ||
| XR_929482.2:n.260+7905C>T |