gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96887652 (EAS)
Genomes Max Group AF
0.95188945 (EAS)
Exomes Max Group AF
0.96867936 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12294025A>G , CM000668.2:g.12294025A>G | GRCh38 |
| NC_000006.11:g.12294258A>G , CM000668.1:g.12294258A>G | GRCh37 |
| NC_000006.10:g.12402244A>G | NCBI36 |
| NG_016196.1:g.8730A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.318A>G MANE Select | ENSP00000368683.5:p.Glu106= | |
| ENST00000379375.5:c.318A>G | ENSP00000368683.5:p.Glu106= | |
| NM_001168319.1:c.315A>G | NP_001161791.1:p.Glu105= | |
| NM_001955.4:c.318A>G | NP_001946.3:p.Glu106= | |
| XM_011514330.1:c.318A>G | XP_011512632.1:p.Glu106= | |
| XM_011514331.1:c.318A>G | XP_011512633.1:p.Glu106= | |
| XM_011514332.1:c.315A>G | XP_011512634.1:p.Glu105= | |
| XM_011514330.2:c.318A>G | XP_011512632.1:p.Glu106= | |
| XM_011514331.3:c.318A>G | XP_011512633.1:p.Glu106= | |
| XM_011514332.2:c.315A>G | XP_011512634.1:p.Glu105= | |
| XM_017010331.1:c.318A>G | XP_016865820.1:p.Glu106= | |
| NM_001955.5:c.318A>G MANE Select | NP_001946.3:p.Glu106= | |
| NM_001168319.2:c.315A>G | NP_001161791.1:p.Glu105= |