gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32614067 (SAS)
Genomes Max Group AF
0.32627677 (SAS)
Exomes Max Group AF
0.07590565 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84909032T>G , CM000678.2:g.84909032T>G | GRCh38 |
| NC_000016.9:g.84942638T>G , CM000678.1:g.84942638T>G | GRCh37 |
| NC_000016.8:g.83500139T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262424.10:c.*2390T>G MANE Select | ENSP00000262424.5:n.*2390T>G | |
| ENST00000262424.9:c.*2390T>G | ENSP00000262424.5:n.*2390T>G | |
| ENST00000566165.1:c.121-10608T>G | ||
| NM_031476.3:c.*2390T>G | NP_113664.1:n.*2390T>G | |
| XM_005256190.1:c.*2390T>G | XP_005256247.1:n.*2390T>G | |
| NM_031476.4:c.*2390T>G MANE Select | NP_113664.1:n.*2390T>G |