Canonical Allele Identifier:
CA166591542
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03957184 (MID)
Genomes Max Group AF
0.03567411 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124306349T>A , CM000669.2:g.124306349T>A | GRCh38 |
| NC_000007.13:g.123946403T>A , CM000669.1:g.123946403T>A | GRCh37 |
| NC_000007.12:g.123733639T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956584.1:n.73-129T>A |