Revel Score:
ENST00000298139 (MANE Select)
0.049
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00602669 (EAS)
Genomes Max Group AF
0.00716969 (EAS)
Exomes Max Group AF
0.00566433 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31087874A>T , CM000670.2:g.31087874A>T | GRCh38 |
| NC_000008.10:g.30945390A>T , CM000670.1:g.30945390A>T | GRCh37 |
| NC_000008.9:g.31064932A>T | NCBI36 |
| NG_008870.1:g.59613A>T , LRG_524:g.59613A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.1530A>T MANE Select | ENSP00000298139.5:p.Glu510Asp | |
| ENST00000650667.1:c.*1144A>T | ENSP00000498593.1:n.*1144A>T | |
| ENST00000298139.5:c.1530A>T | ENSP00000298139.5:p.Glu510Asp | |
| ENST00000521620.5:n.231A>T | ||
| NM_000553.4:c.1530A>T , LRG_524t1:c.1530A>T | NP_000544.2:p.Glu510Asp | |
| XM_011544639.1:c.1449A>T | XP_011542941.1:p.Glu483Asp | |
| XM_011544640.1:c.-2A>T | XP_011542942.1:n.-2A>T | |
| XR_949470.1:n.1803A>T | ||
| XR_949471.1:n.1803A>T | ||
| XR_949472.1:n.1803A>T | ||
| NM_000553.5:c.1530A>T | NP_000544.2:p.Glu510Asp | |
| XM_011544639.3:c.1449A>T | XP_011542941.1:p.Glu483Asp | |
| XM_024447265.1:c.1320A>T | XP_024303033.1:p.Glu440Asp | |
| XR_949470.3:n.1831A>T | ||
| XR_949471.3:n.1831A>T | ||
| XR_949472.3:n.1831A>T | ||
| NM_000553.6:c.1530A>T MANE Select | NP_000544.2:p.Glu510Asp |