gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81180045 (EAS)
Genomes Max Group AF
0.81180045 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45380831T>C , CM000677.2:g.45380831T>C | GRCh38 |
| NC_000015.9:g.45673029T>C , CM000677.1:g.45673029T>C | GRCh37 |
| NC_000015.8:g.43460321T>C | NCBI36 |
| NG_011674.1:g.2952A>G | |
| NG_011674.2:g.26487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458245.5:n.641-272A>G | ||
| ENST00000527933.2:n.513-272A>G | ||
| ENST00000560538.1:n.339-4012A>G | ||
| ENST00000561148.5:c.-318-4012A>G | ENSP00000453860.1:n.-318-4012A>G | |
| XM_011521450.1:c.32-262A>G | XP_011519752.1:n.32-262A>G | |
| XM_011521451.1:c.36-272A>G | XP_011519753.1:n.36-272A>G | |
| NM_001321015.1:c.-394-272A>G | NP_001307944.1:n.-394-272A>G | |
| NM_001321015.2:c.-394-272A>G | NP_001307944.1:n.-394-272A>G |