Canonical Allele Identifier:
CA120802078
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005285 (AMR)
Genomes Max Group AF
0.00005285 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.73136209C>T , CM000667.2:g.73136209C>T | GRCh38 |
| NC_000005.9:g.72432036C>T , CM000667.1:g.72432036C>T | GRCh37 |
| NC_000005.8:g.72467792C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948469.1:n.273-3926G>A | ||
| NR_134252.1:n.174-3926G>A |