gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85034137 (EAS)
Genomes Max Group AF
0.85034137 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38754065G>A , CM000664.2:g.38754065G>A | GRCh38 |
| NC_000002.11:g.38981207G>A , CM000664.1:g.38981207G>A | GRCh37 |
| NC_000002.10:g.38834711G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409011.5:c.-281+2247G>A | ENSP00000387191.1:n.-281+2247G>A |