gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57798233 (EAS)
Genomes Max Group AF
0.57798233 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156186481A>G , CM000667.2:g.156186481A>G | GRCh38 |
| NC_000005.9:g.155613491A>G , CM000667.1:g.155613491A>G | GRCh37 |
| NC_000005.8:g.155546069A>G | NCBI36 |
| NG_008693.2:g.321138A>G , LRG_205:g.321138A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517913.5:c.-44+62462A>G | ENSP00000429378.1:n.-44+62462A>G | |
| XM_006714911.2:c.-44+62462A>G | XP_006714974.1:n.-44+62462A>G | |
| XM_011534621.1:c.-1+62462A>G | XP_011532923.1:n.-1+62462A>G | |
| XM_011534621.2:c.-1+62462A>G | XP_011532923.1:n.-1+62462A>G | |
| XM_017009723.2:c.-44+62462A>G | XP_016865212.1:n.-44+62462A>G | |
| XM_017009724.1:c.-44+62462A>G | XP_016865213.1:n.-44+62462A>G |