Canonical Allele Identifier:
CA136521675
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0726636 (AMR)
Genomes Max Group AF
0.0726636 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.23437448C>A , CM000668.2:g.23437448C>A | GRCh38 |
| NC_000006.11:g.23437676C>A , CM000668.1:g.23437676C>A | GRCh37 |
| NC_000006.10:g.23545655C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926586.1:n.174-4132C>A | ||
| XR_926600.1:n.359+20142G>T | ||
| XR_926601.1:n.359+20142G>T | ||
| XR_001744046.1:n.481+20142G>T | ||
| XR_001744048.1:n.792-4132C>A |