Canonical Allele Identifier:
CA49465770
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01118161 (AFR)
Genomes Max Group AF
0.01118161 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68343640G>T , CM000664.2:g.68343640G>T | GRCh38 |
| NC_000002.11:g.68570772G>T , CM000664.1:g.68570772G>T | GRCh37 |
| NC_000002.10:g.68424276G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_427045.2:n.4651+853G>T | ||
| XR_940224.1:n.292+853G>T | ||
| XR_940224.3:n.328+853G>T |