gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47212993 (EAS)
Genomes Max Group AF
0.47212993 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.32720301A>G , CM000677.2:g.32720301A>G | GRCh38 |
| NC_000015.9:g.33012502A>G , CM000677.1:g.33012502A>G | GRCh37 |
| NC_000015.8:g.30799794A>G | NCBI36 |
| NG_033791.1:g.7298A>G | |
| NG_033791.2:g.7298A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651154.1:c.-2+2140A>G MANE Select | ENSP00000498748.1:n.-2+2140A>G | |
| ENST00000652365.1:c.-2+1599A>G | ENSP00000498763.1:n.-2+1599A>G | |
| ENST00000560677.5:c.-2+2140A>G | ENSP00000453387.1:n.-2+2140A>G | |
| ENST00000560830.1:c.-2+2140A>G | ENSP00000453141.1:n.-2+2140A>G | |
| ENST00000622074.1:c.-2+2140A>G | ENSP00000478319.1:n.-2+2140A>G | |
| NM_001191322.1:c.-2+2140A>G | NP_001178251.1:n.-2+2140A>G | |
| NM_001191323.1:c.-2+2140A>G | NP_001178252.1:n.-2+2140A>G | |
| NM_013372.6:c.-2+2140A>G | NP_037504.1:n.-2+2140A>G | |
| XM_005254301.1:c.167+2140A>G | XP_005254358.1:n.167+2140A>G | |
| XM_017022077.1:c.110+1599A>G | XP_016877566.1:n.110+1599A>G | |
| NM_013372.7:c.-2+2140A>G MANE Select | NP_037504.1:n.-2+2140A>G | |
| NM_001191322.2:c.-2+2140A>G | NP_001178251.1:n.-2+2140A>G | |
| NM_001191323.2:c.-2+2140A>G | NP_001178252.1:n.-2+2140A>G | |
| NM_001368719.1:c.-2+1599A>G | NP_001355648.1:n.-2+1599A>G |