Canonical Allele Identifier:
CA15221271
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94799689 (EAS)
Genomes Max Group AF
0.94799689 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.54434432G>T , CM000664.2:g.54434432G>T | GRCh38 |
| NC_000002.11:g.54661569G>T , CM000664.1:g.54661569G>T | GRCh37 |
| NC_000002.10:g.54515073G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940094.1:n.36+452G>T | ||
| XR_940095.1:n.36+452G>T | ||
| XR_001739475.1:n.1266+452G>T | ||
| XR_940094.2:n.39+452G>T |