gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68630401 (EAS)
Genomes Max Group AF
0.68630401 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11493510G>A , CM000670.2:g.11493510G>A | GRCh38 |
| NC_000008.10:g.11351019G>A , CM000670.1:g.11351019G>A | GRCh37 |
| NC_000008.9:g.11388428G>A | NCBI36 |
| NG_023543.1:g.4499G>A | |
| NG_023543.2:g.4499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+6343G>A | ||
| ENST00000696154.1:c.-91+6343G>A | ENSP00000512445.1:n.-91+6343G>A | |
| ENST00000645242.1:c.-91+6343G>A | ENSP00000494690.1:n.-91+6343G>A |