gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18920803 (AFR)
Genomes Max Group AF
0.18920803 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132657583A>G , CM000667.2:g.132657583A>G | GRCh38 |
| NC_000005.9:g.131993275A>G , CM000667.1:g.131993275A>G | GRCh37 |
| NC_000005.8:g.132021174A>G | NCBI36 |
| NG_012090.1:g.4411A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000459878.5:n.108-707A>G | ||
| ENST00000468334.5:n.547+339A>G | ||
| ENST00000487267.5:n.274+339A>G | ||
| NM_001354991.1:c.-92-707A>G | NP_001341920.1:n.-92-707A>G | |
| NM_001354992.1:c.-93+339A>G | NP_001341921.1:n.-93+339A>G | |
| NM_001354993.1:c.-22+339A>G | NP_001341922.1:n.-22+339A>G | |
| NM_001354991.2:c.-92-707A>G | NP_001341920.1:n.-92-707A>G | |
| NM_001354992.2:c.-93+339A>G | NP_001341921.1:n.-93+339A>G | |
| NM_001354993.2:c.-22+339A>G | NP_001341922.1:n.-22+339A>G |