gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48983366 (EAS)
Genomes Max Group AF
0.48983366 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10367235A>G , CM000673.2:g.10367235A>G | GRCh38 |
| NC_000011.9:g.10388782A>G , CM000673.1:g.10388782A>G | GRCh37 |
| NC_000011.8:g.10345358A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295663.9:n.51-25047A>G | ||
| ENST00000527261.5:n.501+36526A>G | ||
| ENST00000532250.5:c.-6+36526A>G | ENSP00000432707.1:n.-6+36526A>G | |
| ENST00000532966.1:n.119+9844A>G | ||
| NR_103765.1:n.501+36526A>G |