Canonical Allele Identifier:
CA14690390
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31433384 (MID)
Genomes Max Group AF
0.26870795 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44728212G>A , CM000681.2:g.44728212G>A | GRCh38 |
| NC_000019.9:g.45231478G>A , CM000681.1:g.45231478G>A | GRCh37 |
| NC_000019.8:g.49923318G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935983.1:n.585-7C>T |