gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52887278 (SAS)
Genomes Max Group AF
0.52887278 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117326250G>A , CM000669.2:g.117326250G>A | GRCh38 |
| NC_000007.13:g.116966304G>A , CM000669.1:g.116966304G>A | GRCh37 |
| NC_000007.12:g.116753540G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673785.1:c.-491+25220G>A | ENSP00000501235.1:n.-491+25220G>A |