gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56495869 (EAS)
Genomes Max Group AF
0.57247637 (EAS)
Exomes Max Group AF
0.56210358 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31625699A>G , CM000668.2:g.31625699A>G | GRCh38 |
| NC_000006.11:g.31593476A>G , CM000668.1:g.31593476A>G | GRCh37 |
| NC_000006.10:g.31701455A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.759+88A>G MANE Select | ENSP00000365201.2:n.759+88A>G | |
| ENST00000376007.8:c.759+88A>G | ENSP00000365175.4:n.759+88A>G | |
| ENST00000376033.2:c.759+88A>G | ENSP00000365201.2:n.759+88A>G | |
| ENST00000469577.5:n.604+88A>G | ||
| NM_004638.3:c.759+88A>G | NP_004629.3:n.759+88A>G | |
| NM_080686.2:c.759+88A>G | NP_542417.2:n.759+88A>G | |
| XM_011514890.1:c.759+88A>G | XP_011513192.1:n.759+88A>G | |
| XM_017011274.1:c.759+88A>G | XP_016866763.1:n.759+88A>G | |
| NM_004638.4:c.759+88A>G MANE Select | NP_004629.3:n.759+88A>G | |
| NM_080686.3:c.759+88A>G | NP_542417.2:n.759+88A>G |