Canonical Allele Identifier:
CA278724235
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10170691 (AFR)
Genomes Max Group AF
0.10170691 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.19144694G>A , CM000678.2:g.19144694G>A | GRCh38 |
| NC_000016.9:g.19156016G>A , CM000678.1:g.19156016G>A | GRCh37 |
| NC_000016.8:g.19063517G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564808.6:c.642+17409G>A | ||
| ENST00000568526.1:c.212-8394G>A |