Canonical Allele Identifier:
CA249516752
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32272285 (AFR)
Genomes Max Group AF
0.32272285 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.43897741A>G , CM000675.2:g.43897741A>G | GRCh38 |
| NC_000013.10:g.44471877A>G , CM000675.1:g.44471877A>G | GRCh37 |
| NC_000013.9:g.43369877A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627615.1:c.756+6171A>G |