gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80073292 (NFE)
Genomes Max Group AF
0.79401628 (NFE)
Exomes Max Group AF
0.80084803 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133539010A>G , CM000672.2:g.133539010A>G | GRCh38 |
| NC_000010.10:g.135352514A>G , CM000672.1:g.135352514A>G | GRCh37 |
| NC_000010.9:g.135202504A>G | NCBI36 |
| NG_008383.1:g.16648A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.*46A>G MANE Select | ENSP00000252945.3:n.*46A>G | |
| ENST00000252945.7:c.*46A>G | ENSP00000252945.3:n.*46A>G | |
| ENST00000368520.1:n.1358+1118A>G | ||
| ENST00000463117.6:c.*46A>G | ENSP00000440689.1:n.*46A>G | |
| ENST00000469258.1:n.624A>G | ||
| NM_000773.3:c.*46A>G | NP_000764.1:n.*46A>G | |
| NM_000773.4:c.*46A>G MANE Select | NP_000764.1:n.*46A>G |