gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36052917 (EAS)
Genomes Max Group AF
0.36052917 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204171656G>A , CM000663.2:g.204171656G>A | GRCh38 |
| NC_000001.10:g.204140784G>A , CM000663.1:g.204140784G>A | GRCh37 |
| NC_000001.9:g.202407407G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638118.1:c.-17+851C>T | ENSP00000490307.1:n.-17+851C>T | |
| XR_922444.1:n.392+851C>T |