gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13350047 (EAS)
Genomes Max Group AF
0.10994375 (EAS)
Exomes Max Group AF
0.13573752 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56874986C>G , CM000667.2:g.56874986C>G | GRCh38 |
| NC_000005.9:g.56170813C>G , CM000667.1:g.56170813C>G | GRCh37 |
| NC_000005.8:g.56206570C>G | NCBI36 |
| NG_031884.1:g.64914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.1687-46C>G MANE Select | ENSP00000382423.3:n.1687-46C>G | |
| ENST00000399503.3:c.1687-46C>G | ENSP00000382423.3:n.1687-46C>G | |
| NM_005921.1:c.1687-46C>G | NP_005912.1:n.1687-46C>G | |
| XM_005248519.3:c.1309-46C>G | XP_005248576.2:n.1309-46C>G | |
| XM_011543406.1:c.1432-46C>G | XP_011541708.1:n.1432-46C>G | |
| XM_011543407.1:c.1686+1981C>G | XP_011541709.1:n.1686+1981C>G | |
| XM_011543408.1:c.1687-46C>G | XP_011541710.1:n.1687-46C>G | |
| XM_017009484.1:c.1276-46C>G | XP_016864973.1:n.1276-46C>G | |
| XM_017009485.1:c.1198-46C>G | XP_016864974.1:n.1198-46C>G | |
| XR_001742068.2:n.1718-46C>G | ||
| NM_005921.2:c.1687-46C>G MANE Select | NP_005912.1:n.1687-46C>G |