gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54590728 (NFE)
Genomes Max Group AF
0.54590728 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201246657A>G , CM000664.2:g.201246657A>G | GRCh38 |
| NC_000002.11:g.202111380A>G , CM000664.1:g.202111380A>G | GRCh37 |
| NC_000002.10:g.201819625A>G | NCBI36 |
| NG_007497.1:g.18200A>G , LRG_34:g.18200A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440732.6:c.-1+12545A>G | ENSP00000396869.2:n.-1+12545A>G | |
| ENST00000450491.6:c.-5+12545A>G | ENSP00000391709.2:n.-5+12545A>G | |
| ENST00000696067.1:c.-27+12545A>G | ENSP00000512369.1:n.-27+12545A>G | |
| ENST00000264274.13:c.-27+12545A>G | ENSP00000264274.9:n.-27+12545A>G | |
| ENST00000264275.9:c.-27+12545A>G | ENSP00000264275.5:n.-27+12545A>G | |
| ENST00000392258.7:c.-27+12545A>G | ENSP00000376087.3:n.-27+12545A>G | |
| ENST00000392263.6:c.-27+12545A>G | ENSP00000376091.2:n.-27+12545A>G | |
| ENST00000432109.6:c.-1+12545A>G | ENSP00000412523.2:n.-1+12545A>G | |
| ENST00000440732.5:c.-1+12545A>G | ENSP00000396869.1:n.-1+12545A>G | |
| ENST00000450491.5:c.-5+12545A>G | ENSP00000391709.1:n.-5+12545A>G | |
| ENST00000471383.5:n.250+12545A>G | ||
| NM_001080124.1:c.-27+12545A>G | NP_001073593.1:n.-27+12545A>G | |
| NM_001228.4:c.-27+12545A>G , LRG_34t1:c.-27+12545A>G | NP_001219.2:n.-27+12545A>G | |
| NM_033355.3:c.-1+12545A>G , LRG_34t2:c.-1+12545A>G | NP_203519.1:n.-1+12545A>G | |
| NM_033358.3:c.-27+12545A>G | NP_203522.1:n.-27+12545A>G | |
| XM_005246887.1:c.-27+12545A>G | XP_005246944.1:n.-27+12545A>G | |
| XM_005246888.1:c.-1+12545A>G | XP_005246945.1:n.-1+12545A>G | |
| XM_005246894.2:c.-559+12545A>G | XP_005246951.1:n.-559+12545A>G | |
| XM_006712789.1:c.-27+12545A>G | XP_006712852.1:n.-27+12545A>G | |
| XM_006712793.2:c.-27+12545A>G | XP_006712856.1:n.-27+12545A>G | |
| XM_005246887.2:c.-27+12545A>G | XP_005246944.1:n.-27+12545A>G | |
| XM_005246888.2:c.-1+12545A>G | XP_005246945.1:n.-1+12545A>G | |
| XM_005246894.4:c.-559+12545A>G | XP_005246951.1:n.-559+12545A>G | |
| XM_006712789.2:c.-27+12545A>G | XP_006712852.1:n.-27+12545A>G | |
| XM_006712793.3:c.-27+12545A>G | XP_006712856.1:n.-27+12545A>G | |
| XR_001738971.1:n.250+12545A>G | ||
| NM_001080124.2:c.-27+12545A>G | NP_001073593.1:n.-27+12545A>G | |
| NM_033358.4:c.-27+12545A>G | NP_203522.1:n.-27+12545A>G | |
| NM_001400648.1:c.-27+12545A>G | NP_001387577.1:n.-27+12545A>G | |
| NM_001400651.1:c.-27+12545A>G | NP_001387580.1:n.-27+12545A>G | |
| NM_001400657.1:c.-1+12545A>G | NP_001387586.1:n.-1+12545A>G | |
| NM_001400660.1:c.-1+12545A>G | NP_001387589.1:n.-1+12545A>G | |
| NM_001400661.1:c.-1+12545A>G | NP_001387590.1:n.-1+12545A>G | |
| NM_001400663.1:c.-27+12545A>G | NP_001387592.1:n.-27+12545A>G | |
| NM_001400669.1:c.-5+12545A>G | NP_001387598.1:n.-5+12545A>G | |
| NM_001400677.1:c.-533+12545A>G | NP_001387606.1:n.-533+12545A>G | |
| NM_001400679.1:c.-27+12545A>G | NP_001387608.1:n.-27+12545A>G | |
| NM_001400680.1:c.-638+12545A>G | NP_001387609.1:n.-638+12545A>G | |
| NR_174565.1:n.189+12545A>G | ||
| NR_174581.1:n.189+12545A>G | ||
| NR_174583.1:n.189+12545A>G | ||
| NR_174588.1:n.257+12545A>G | ||
| NR_174590.1:n.189+12545A>G | ||
| NR_174594.1:n.189+12545A>G | ||
| NR_174598.1:n.257+12545A>G |