gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033152 (EAS)
Genomes Max Group AF
0.00076819 (EAS)
Exomes Max Group AF
0.00021269 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90763132A>G , CM000677.2:g.90763132A>G | GRCh38 |
| NC_000015.9:g.91306362A>G , CM000677.1:g.91306362A>G | GRCh37 |
| NC_000015.8:g.89107366A>G | NCBI36 |
| NG_007272.1:g.50761A>G , LRG_20:g.50761A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.2049A>G MANE Select | ENSP00000347232.3:p.Glu683= | |
| ENST00000648453.1:c.2049A>G | ENSP00000497646.1:p.Glu683= | |
| ENST00000680772.1:c.2049A>G | ENSP00000506117.1:p.Glu683= | |
| ENST00000681142.1:c.2049A>G | ENSP00000506682.1:p.Glu683= | |
| ENST00000355112.7:c.2049A>G | ENSP00000347232.3:p.Glu683= | |
| ENST00000559426.5:n.226A>G | ||
| ENST00000559724.5:c.*973A>G | ENSP00000453359.1:n.*973A>G | |
| ENST00000560136.5:n.194A>G | ||
| ENST00000560509.5:c.2049A>G | ENSP00000454158.1:p.Glu683= | |
| NM_000057.3:c.2049A>G | NP_000048.1:p.Glu683= | |
| NM_001287246.1:c.2049A>G | NP_001274175.1:p.Glu683= | |
| NM_001287247.1:c.2049A>G | NP_001274176.1:p.Glu683= | |
| NM_001287248.1:c.924A>G | NP_001274177.1:p.Glu308= | |
| XM_006720632.2:c.87A>G | XP_006720695.1:p.Glu29= | |
| XM_011521881.1:c.735A>G | XP_011520183.1:p.Glu245= | |
| XM_011521882.1:c.2049A>G | XP_011520184.1:p.Glu683= | |
| XM_011521881.2:c.735A>G | XP_011520183.1:p.Glu245= | |
| XM_011521882.3:c.2049A>G | XP_011520184.1:p.Glu683= | |
| NM_000057.4:c.2049A>G MANE Select | NP_000048.1:p.Glu683= | |
| NM_001287246.2:c.2049A>G | NP_001274175.1:p.Glu683= | |
| NM_001287247.2:c.2049A>G | NP_001274176.1:p.Glu683= | |
| NM_001287248.2:c.924A>G | NP_001274177.1:p.Glu308= |