gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22880437 (AMR)
Genomes Max Group AF
0.22880437 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.77505730G>A , CM000674.2:g.77505730G>A | GRCh38 |
| NC_000012.11:g.77899510G>A , CM000674.1:g.77899510G>A | GRCh37 |
| NC_000012.10:g.76423641G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550042.2:c.-336-66129G>A | ENSP00000489639.1:n.-336-66129G>A |