gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104712857T>G , CM000676.2:g.104712857T>G | GRCh38 |
| NC_000014.8:g.105179194T>G , CM000676.1:g.105179194T>G | GRCh37 |
| NC_000014.7:g.104250239T>G | NCBI36 |
| NG_027684.1:g.28252T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.2640T>G MANE Select | ENSP00000376410.4:p.Asp880Glu | |
| ENST00000617571.5:c.2640T>G | ENSP00000483829.2:p.Asp880Glu | |
| ENST00000674520.1:c.2635T>G | ENSP00000502593.1:p.Ter879Gly | |
| ENST00000674631.1:c.678T>G | ENSP00000502830.1:p.Asp226Glu | |
| ENST00000674662.1:c.2644T>G | ENSP00000501895.1:n.2644T>G | |
| ENST00000674757.1:c.2640T>G | ENSP00000502202.1:p.Asp880Glu | |
| ENST00000674822.1:c.2524T>G | ENSP00000501552.1:n.2524T>G | |
| ENST00000674846.1:c.2635T>G | ENSP00000502431.1:n.2635T>G | |
| ENST00000674857.1:c.2629T>G | ENSP00000501687.1:n.2629T>G | |
| ENST00000674960.1:c.2498T>G | ENSP00000501841.1:n.2498T>G | |
| ENST00000674991.1:c.1890T>G | ENSP00000502004.1:p.Asp630Glu | |
| ENST00000674994.1:c.2606T>G | ENSP00000502442.1:n.2606T>G | |
| ENST00000675207.1:c.2736T>G | ENSP00000502644.1:p.Asp912Glu | |
| ENST00000675329.1:c.2616T>G | ENSP00000502287.1:p.Asp872Glu | |
| ENST00000675481.1:c.2640T>G | ENSP00000502723.1:p.Asp880Glu | |
| ENST00000675557.1:n.419T>G | ||
| ENST00000675583.1:c.2569T>G | ENSP00000501740.1:n.2569T>G | |
| ENST00000675638.1:c.2640T>G | ENSP00000501647.1:p.Asp880Glu | |
| ENST00000675724.1:c.2578T>G | ENSP00000502576.1:n.2578T>G | |
| ENST00000675771.1:c.1903T>G | ENSP00000502104.1:n.1903T>G | |
| ENST00000675797.1:c.2045T>G | ENSP00000502023.1:n.2045T>G | |
| ENST00000675809.1:c.2695T>G | ENSP00000502587.1:n.2695T>G | |
| ENST00000675930.1:c.2640T>G | ENSP00000502456.1:p.Asp880Glu | |
| ENST00000675980.1:c.2658T>G | ENSP00000502520.1:p.Asp886Glu | |
| ENST00000676016.1:c.2539T>G | ENSP00000502412.1:n.2539T>G | |
| ENST00000676366.1:c.2640T>G | ENSP00000501605.1:p.Asp880Glu | |
| ENST00000252527.8:c.1044T>G | ENSP00000252527.8:p.Asp348Glu | |
| ENST00000330634.11:c.2640T>G | ENSP00000376406.3:p.Asp880Glu | |
| ENST00000392634.8:c.2640T>G | ENSP00000376410.4:p.Asp880Glu | |
| ENST00000477497.1:n.145T>G | ||
| ENST00000480763.2:n.505T>G | ||
| ENST00000617571.4:c.-1494T>G | ENSP00000483829.1:n.-1494T>G | |
| NM_001031714.3:c.2640T>G | NP_001026884.3:p.Asp880Glu | |
| NM_022489.3:c.2640T>G | NP_071934.3:p.Asp880Glu | |
| XM_005268004.3:c.2736T>G | XP_005268061.1:p.Asp912Glu | |
| XM_005268005.3:c.2736T>G | XP_005268062.1:p.Asp912Glu | |
| XR_943507.1:n.2865T>G | ||
| XM_005268004.4:c.2736T>G | XP_005268061.1:p.Asp912Glu | |
| XM_005268005.4:c.2736T>G | XP_005268062.1:p.Asp912Glu | |
| XM_017021595.1:c.2736T>G | XP_016877084.1:p.Asp912Glu | |
| NM_001031714.4:c.2640T>G | NP_001026884.3:p.Asp880Glu | |
| NM_022489.4:c.2640T>G MANE Select | NP_071934.3:p.Asp880Glu |