Canonical Allele Identifier:
CA11646506
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60139631 (AFR)
Genomes Max Group AF
0.60139631 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54227788G>A , CM000666.2:g.54227788G>A | GRCh38 |
| NC_000004.11:g.55093955G>A , CM000666.1:g.55093955G>A | GRCh37 |
| NC_000004.10:g.54788712G>A | NCBI36 |
| NG_009250.1:g.3692G>A , LRG_309:g.3692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507166.5:c.1018-47137G>A | ENSP00000423325.1:n.1018-47137G>A |