gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84319392 (EAS)
Genomes Max Group AF
0.84319392 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74083398A>G , CM000669.2:g.74083398A>G | GRCh38 |
| NC_000007.13:g.73497728A>G , CM000669.1:g.73497728A>G | GRCh37 |
| NC_000007.12:g.73135664A>G | NCBI36 |
| NG_008129.1:g.4573A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418310.5:c.145+219A>G | ENSP00000409717.1:n.145+219A>G |