Revel Score:
ENST00000298139 (MANE Select)
0.563
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00265402 (NFE)
Genomes Max Group AF
0.00220587 (AMR)
Exomes Max Group AF
0.00269645 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31090529A>G , CM000670.2:g.31090529A>G | GRCh38 |
| NC_000008.10:g.30948045A>G , CM000670.1:g.30948045A>G | GRCh37 |
| NC_000008.9:g.31067587A>G | NCBI36 |
| NG_008870.1:g.62268A>G , LRG_524:g.62268A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.1717A>G MANE Select | ENSP00000298139.5:p.Thr573Ala | |
| ENST00000650667.1:c.*1331A>G | ENSP00000498593.1:n.*1331A>G | |
| ENST00000298139.5:c.1717A>G | ENSP00000298139.5:p.Thr573Ala | |
| ENST00000521620.5:n.354-305A>G | ||
| NM_000553.4:c.1717A>G , LRG_524t1:c.1717A>G | NP_000544.2:p.Thr573Ala | |
| XM_011544639.1:c.1636A>G | XP_011542941.1:p.Thr546Ala | |
| XM_011544640.1:c.122-305A>G | XP_011542942.1:n.122-305A>G | |
| XR_949470.1:n.1990A>G | ||
| XR_949471.1:n.1990A>G | ||
| XR_949472.1:n.1990A>G | ||
| NM_000553.5:c.1717A>G | NP_000544.2:p.Thr573Ala | |
| XM_011544639.3:c.1636A>G | XP_011542941.1:p.Thr546Ala | |
| XM_024447265.1:c.1507A>G | XP_024303033.1:p.Thr503Ala | |
| XR_949470.3:n.2018A>G | ||
| XR_949471.3:n.2018A>G | ||
| XR_949472.3:n.2018A>G | ||
| NM_000553.6:c.1717A>G MANE Select | NP_000544.2:p.Thr573Ala |