Canonical Allele Identifier:
CA13910095
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6467795 (EAS)
Genomes Max Group AF
0.6467795 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.43900381G>A , CM000675.2:g.43900381G>A | GRCh38 |
| NC_000013.10:g.44474517G>A , CM000675.1:g.44474517G>A | GRCh37 |
| NC_000013.9:g.43372517G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627615.1:c.757-6499G>A |