Canonical Allele Identifier:
CA11609845
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44636687 (EAS)
Genomes Max Group AF
0.44636687 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.77995538G>A , CM000665.2:g.77995538G>A | GRCh38 |
| NC_000003.11:g.78044689G>A , CM000665.1:g.78044689G>A | GRCh37 |
| NC_000003.10:g.78127379G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940977.1:n.215+27263C>T | ||
| XR_940978.1:n.215+27263C>T | ||
| XR_940979.1:n.215+27263C>T | ||
| XR_940977.3:n.215+27263C>T | ||
| XR_940978.3:n.215+27263C>T |