gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16095417 (NFE)
Genomes Max Group AF
0.15824442 (NFE)
Exomes Max Group AF
0.16098596 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126290792A>G , CM000673.2:g.126290792A>G | GRCh38 |
| NC_000011.9:g.126160687A>G , CM000673.1:g.126160687A>G | GRCh37 |
| NC_000011.8:g.125665897A>G | NCBI36 |
| NG_011523.1:g.12706A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479770.2:c.-92-11A>G | ENSP00000436967.1:n.-92-11A>G | |
| ENST00000700488.1:c.-92-11A>G | ENSP00000515016.1:n.-92-11A>G | |
| ENST00000700489.1:c.-92-11A>G | ENSP00000515017.1:n.-92-11A>G | |
| ENST00000700490.1:c.-92-11A>G | ENSP00000515018.1:n.-92-11A>G | |
| ENST00000700491.1:c.-92-11A>G | ENSP00000515019.1:n.-92-11A>G | |
| ENST00000700492.1:c.-92-11A>G | ENSP00000515021.1:n.-92-11A>G | |
| ENST00000700493.1:n.1554-11A>G | ||
| ENST00000700494.1:n.1164-11A>G | ||
| ENST00000700495.1:c.-92-11A>G | ENSP00000515022.1:n.-92-11A>G | |
| ENST00000392679.6:c.-92-11A>G MANE Select | ENSP00000376446.1:n.-92-11A>G | |
| ENST00000392678.7:c.-92-11A>G | ENSP00000376445.3:n.-92-11A>G | |
| ENST00000392679.5:c.-92-11A>G | ENSP00000376446.1:n.-92-11A>G | |
| ENST00000392680.6:c.-92-11A>G | ENSP00000376447.2:n.-92-11A>G | |
| ENST00000462401.1:n.90-11A>G | ||
| ENST00000467006.6:n.473-11A>G | ||
| ENST00000488598.5:c.-92-11A>G | ENSP00000446213.1:n.-92-11A>G | |
| NM_001039661.1:c.-92-11A>G | NP_001034750.1:n.-92-11A>G | |
| NM_148910.2:c.-92-11A>G | NP_683708.1:n.-92-11A>G | |
| XM_005271399.2:c.236-11A>G | XP_005271456.1:n.236-11A>G | |
| XM_011542576.1:c.-92-11A>G | XP_011540878.1:n.-92-11A>G | |
| XM_011542577.1:c.236-1685A>G | XP_011540879.1:n.236-1685A>G | |
| XM_011542578.1:c.-92-11A>G | XP_011540880.1:n.-92-11A>G | |
| XM_011542579.1:c.-92-11A>G | XP_011540881.1:n.-92-11A>G | |
| XM_011542580.1:c.-92-11A>G | XP_011540882.1:n.-92-11A>G | |
| XM_011542581.1:c.-92-11A>G | XP_011540883.1:n.-92-11A>G | |
| XM_011542582.1:c.-92-11A>G | XP_011540884.1:n.-92-11A>G | |
| NM_001318776.1:c.-92-11A>G | NP_001305705.1:n.-92-11A>G | |
| NM_001318777.1:c.-92-11A>G | NP_001305706.1:n.-92-11A>G | |
| NM_001039661.2:c.-92-11A>G | NP_001034750.1:n.-92-11A>G | |
| NM_001318776.2:c.-92-11A>G | NP_001305705.1:n.-92-11A>G | |
| NM_001318777.2:c.-92-11A>G MANE Select | NP_001305706.1:n.-92-11A>G | |
| NM_148910.3:c.-92-11A>G | NP_683708.1:n.-92-11A>G |