Revel Score:
ENST00000490131
0.240
ENST00000498619
0.240
ENST00000296154
0.240
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97662572 (EAS)
Genomes Max Group AF
0.95859975 (EAS)
Exomes Max Group AF
0.97655675 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284985G>C , CM000665.2:g.122284985G>C | GRCh38 |
| NC_000003.11:g.122003832G>C , CM000665.1:g.122003832G>C | GRCh37 |
| NC_000003.10:g.123486522G>C | NCBI36 |
| NG_009058.2:g.106318G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.2800G>C | ENSP00000418685.2:p.Glu934Gln | |
| ENST00000498619.4:c.3061G>C | ENSP00000420194.1:p.Glu1021Gln | |
| ENST00000638421.1:c.3031G>C | ENSP00000492190.1:p.Glu1011Gln | |
| ENST00000639785.2:c.3031G>C MANE Select | ENSP00000491584.2:p.Glu1011Gln | |
| ENST00000490131.5:c.3031G>C | ENSP00000418685.1:p.Glu1011Gln | |
| ENST00000498619.2:c.3061G>C | ENSP00000420194.1:p.Glu1021Gln | |
| XM_005247836.2:c.3031G>C | XP_005247893.1:p.Glu1011Gln | |
| XM_005247837.2:c.2548G>C | XP_005247894.1:p.Glu850Gln | |
| XM_006713789.2:c.3031G>C | XP_006713852.1:p.Glu1011Gln | |
| XM_011513237.1:c.3031G>C | XP_011511539.1:p.Glu1011Gln | |
| XM_011513238.1:c.3031G>C | XP_011511540.1:p.Glu1011Gln | |
| XM_011513239.1:c.2443G>C | XP_011511541.1:p.Glu815Gln | |
| XM_006713789.3:c.3031G>C | XP_006713852.1:p.Glu1011Gln | |
| XM_017007324.1:c.3031G>C | XP_016862813.1:p.Glu1011Gln | |
| XM_017007325.1:c.3031G>C | XP_016862814.1:p.Glu1011Gln | |
| NM_000388.4:c.3031G>C MANE Select | NP_000379.3:p.Glu1011Gln | |
| NM_001178065.2:c.3061G>C | NP_001171536.2:p.Glu1021Gln |