gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61196144 (EAS)
Genomes Max Group AF
0.61196144 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.133605461T>C , CM000664.2:g.133605461T>C | GRCh38 |
| NC_000002.11:g.134363032T>C , CM000664.1:g.134363032T>C | GRCh37 |
| NC_000002.10:g.134079502T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005263660.2:c.-62+35896A>G | XP_005263717.1:n.-62+35896A>G | |
| XM_011511099.1:c.-130+35896A>G | XP_011509401.1:n.-130+35896A>G | |
| XM_011511100.1:c.-129-46344A>G | XP_011509402.1:n.-129-46344A>G | |
| XM_005263660.4:c.-62+35896A>G | XP_005263717.1:n.-62+35896A>G | |
| XM_011511099.3:c.-130+35896A>G | XP_011509401.1:n.-130+35896A>G | |
| XM_011511100.3:c.-129-46344A>G | XP_011509402.1:n.-129-46344A>G | |
| XM_017003975.2:c.-62+69213A>G | XP_016859464.1:n.-62+69213A>G |