gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98610399 (EAS)
Genomes Max Group AF
0.96831313 (EAS)
Exomes Max Group AF
0.98598296 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3648382T>C , CM000674.2:g.3648382T>C | GRCh38 |
| NC_000012.11:g.3757548T>C , CM000674.1:g.3757548T>C | GRCh37 |
| NC_000012.10:g.3627809T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440314.7:c.1118+160A>G MANE Select | ENSP00000409382.2:n.1118+160A>G | |
| ENST00000252322.1:c.*90A>G | ENSP00000252322.1:n.*90A>G | |
| ENST00000333750.9:c.686A>G | ||
| ENST00000440314.6:c.1118+160A>G | ENSP00000409382.2:n.1118+160A>G | |
| ENST00000535292.1:c.84+160A>G | ||
| NM_001144958.1:c.1118+160A>G | NP_001138430.1:n.1118+160A>G | |
| NM_032680.3:c.*90A>G | NP_116069.1:n.*90A>G | |
| XM_006719021.2:c.1118+160A>G | XP_006719084.1:n.1118+160A>G | |
| XM_011521034.1:c.1118+160A>G | XP_011519336.1:n.1118+160A>G | |
| XM_011521035.1:c.1118+160A>G | XP_011519337.1:n.1118+160A>G | |
| XM_011521036.1:c.1118+160A>G | XP_011519338.1:n.1118+160A>G | |
| XM_011521037.1:c.401+160A>G | XP_011519339.1:n.401+160A>G | |
| XM_011521038.1:c.401+160A>G | XP_011519340.1:n.401+160A>G | |
| XM_006719021.3:c.1118+160A>G | XP_006719084.1:n.1118+160A>G | |
| XM_011521034.3:c.1118+160A>G | XP_011519336.1:n.1118+160A>G | |
| XM_011521036.3:c.1118+160A>G | XP_011519338.1:n.1118+160A>G | |
| XM_011521037.2:c.401+160A>G | XP_011519339.1:n.401+160A>G | |
| XM_011521038.2:c.401+160A>G | XP_011519340.1:n.401+160A>G | |
| NM_001144958.2:c.1118+160A>G MANE Select | NP_001138430.1:n.1118+160A>G | |
| NM_032680.4:c.*90A>G | NP_116069.1:n.*90A>G |