Canonical Allele Identifier:
CA12205683
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51364273 (MID)
Genomes Max Group AF
0.45953234 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116447754A>G , CM000668.2:g.116447754A>G | GRCh38 |
| NC_000006.11:g.116768917A>G , CM000668.1:g.116768917A>G | GRCh37 |
| NC_000006.10:g.116875610A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644499.1:c.767-15529A>G | ENSP00000495266.1:n.767-15529A>G |