gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62370915 (NFE)
Genomes Max Group AF
0.62370915 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128937250T>G , CM000669.2:g.128937250T>G | GRCh38 |
| NC_000007.13:g.128577304T>G , CM000669.1:g.128577304T>G | GRCh37 |
| NC_000007.12:g.128364540T>G | NCBI36 |
| NG_012306.1:g.4311T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001347928.1:c.-27T>G | NP_001334857.1:n.-27T>G | |
| NM_001347928.2:c.-27T>G | NP_001334857.1:n.-27T>G |