Canonical Allele Identifier:
CA13812284
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25310791 (AMR)
Genomes Max Group AF
0.25310791 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48892795G>T , CM000675.2:g.48892795G>T | GRCh38 |
| NC_000013.10:g.49466931G>T , CM000675.1:g.49466931G>T | GRCh37 |
| NC_000013.9:g.48364932G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749987.1:n.221-4249G>T |