gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79716306 (NFE)
Genomes Max Group AF
0.79622314 (NFE)
Exomes Max Group AF
0.79650495 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538649A>G , CM000672.2:g.133538649A>G | GRCh38 |
| NC_000010.10:g.135352153A>G , CM000672.1:g.135352153A>G | GRCh37 |
| NC_000010.9:g.135202143A>G | NCBI36 |
| NG_008383.1:g.16287A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1298-131A>G MANE Select | ENSP00000252945.3:n.1298-131A>G | |
| ENST00000252945.7:c.1298-131A>G | ENSP00000252945.3:n.1298-131A>G | |
| ENST00000368520.1:n.1358+757A>G | ||
| ENST00000418356.1:c.887-131A>G | ENSP00000397299.1:n.887-131A>G | |
| ENST00000421586.5:c.1037-131A>G | ENSP00000412754.1:n.1037-131A>G | |
| ENST00000463117.6:c.1298-131A>G | ENSP00000440689.1:n.1298-131A>G | |
| ENST00000469258.1:n.394-131A>G | ||
| ENST00000541080.5:c.714-131A>G | ||
| NM_000773.3:c.1298-131A>G | NP_000764.1:n.1298-131A>G | |
| NM_000773.4:c.1298-131A>G MANE Select | NP_000764.1:n.1298-131A>G |