Canonical Allele Identifier:
CA12232622
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1779962 (MID)
Genomes Max Group AF
0.17196443 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33794465G>A , CM000668.2:g.33794465G>A | GRCh38 |
| NC_000006.11:g.33762242G>A , CM000668.1:g.33762242G>A | GRCh37 |
| NC_000006.10:g.33870220G>A | NCBI36 |
| NG_053042.1:g.4810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926707.1:n.1443+1310G>A | ||
| XR_926708.1:n.227+1310G>A | ||
| XR_926709.1:n.1443+1310G>A | ||
| XR_001744088.1:n.81+1310G>A | ||
| XR_926707.2:n.81+1310G>A |