gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18233477 (EAS)
Genomes Max Group AF
0.18396778 (EAS)
Exomes Max Group AF
0.17659009 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4092240T>G , CM000673.2:g.4092240T>G | GRCh38 |
| NC_000011.9:g.4113470T>G , CM000673.1:g.4113470T>G | GRCh37 |
| NC_000011.8:g.4070046T>G | NCBI36 |
| NG_016277.1:g.241538T>G , LRG_164:g.241538T>G | |
| NG_027992.2:g.2547T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.*914T>G | ENSP00000432210.2:n.*914T>G | |
| ENST00000698910.1:c.*442T>G | ENSP00000514024.1:n.*442T>G | |
| ENST00000698911.1:c.*442T>G | ENSP00000514025.1:n.*442T>G | |
| ENST00000698912.1:c.*914T>G | ENSP00000514026.1:n.*914T>G | |
| ENST00000698913.1:c.*442T>G | ENSP00000514027.1:n.*442T>G | |
| ENST00000698915.1:c.*442T>G | ENSP00000514029.1:n.*442T>G | |
| ENST00000698916.1:c.*442T>G | ENSP00000514030.1:n.*442T>G | |
| ENST00000698918.1:c.*2238T>G | ENSP00000514031.1:n.*2238T>G | |
| ENST00000698919.1:c.*1433T>G | ENSP00000514032.1:n.*1433T>G | |
| ENST00000698920.1:n.1800T>G | ||
| ENST00000526596.2:c.*442T>G MANE Select | ENSP00000433266.2:n.*442T>G | |
| ENST00000300737.8:c.*442T>G | ENSP00000300737.4:n.*442T>G | |
| ENST00000616714.4:c.*442T>G | ENSP00000478059.1:n.*442T>G | |
| NM_001277961.1:c.*442T>G | NP_001264890.1:n.*442T>G | |
| NM_001277962.1:c.*914T>G | NP_001264891.1:n.*914T>G | |
| NM_003156.3:c.*442T>G , LRG_164t1:c.*442T>G | NP_003147.2:n.*442T>G | |
| NM_001277962.2:c.*914T>G | NP_001264891.1:n.*914T>G | |
| NM_001277961.3:c.*442T>G | NP_001264890.1:n.*442T>G | |
| NM_001382566.1:c.*442T>G | NP_001369495.1:n.*442T>G | |
| NM_001382567.1:c.*442T>G MANE Select | NP_001369496.1:n.*442T>G | |
| NM_001382568.1:c.*442T>G | NP_001369497.1:n.*442T>G | |
| NM_001382569.1:c.*442T>G | NP_001369498.1:n.*442T>G | |
| NM_001382570.1:c.*442T>G | NP_001369499.1:n.*442T>G | |
| NM_001382571.1:c.*442T>G | NP_001369500.1:n.*442T>G | |
| NM_001382575.1:c.*442T>G | NP_001369504.1:n.*442T>G | |
| NM_001382576.1:c.*442T>G | NP_001369505.1:n.*442T>G | |
| NM_001382577.1:c.*442T>G | NP_001369506.1:n.*442T>G | |
| NM_001382578.1:c.*914T>G | NP_001369507.1:n.*914T>G | |
| NM_001382579.1:c.*914T>G | NP_001369508.1:n.*914T>G | |
| NM_001382580.1:c.*914T>G | NP_001369509.1:n.*914T>G | |
| NM_001382581.1:c.*442T>G | NP_001369510.1:n.*442T>G | |
| NM_003156.4:c.*442T>G | NP_003147.2:n.*442T>G | |
| NR_168436.1:n.2424T>G | ||
| NR_168437.1:n.2929T>G | ||
| NR_168438.1:n.2751T>G |