Revel Score:
ENST00000554357
0.030
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002826 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002828 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92004991T>C , CM000676.2:g.92004991T>C | GRCh38 |
| NC_000014.8:g.92471335T>C , CM000676.1:g.92471335T>C | GRCh37 |
| NC_000014.7:g.91541088T>C | NCBI36 |
| NG_016970.1:g.40069A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.2985A>G MANE Select | ENSP00000267622.4:p.Gln995= | |
| ENST00000554357.5:c.2131A>G | ||
| NM_004239.3:c.2985A>G | NP_004230.2:p.Gln995= | |
| XM_005268214.2:c.1659A>G | XP_005268271.1:p.Gln553= | |
| XM_005268215.2:c.1527+2649A>G | XP_005268272.1:n.1527+2649A>G | |
| XM_006720321.2:c.2982A>G | XP_006720384.1:p.Gln994= | |
| XM_011537361.1:c.2985A>G | XP_011535663.1:p.Gln995= | |
| XR_943560.1:n.3440A>G | ||
| NM_001321851.1:c.2982A>G | NP_001308780.1:p.Gln994= | |
| NM_004239.4:c.2985A>G MANE Select | NP_004230.2:p.Gln995= | |
| XM_017021787.2:c.2280A>G | XP_016877276.1:p.Gln760= | |
| XM_017021788.2:c.1659A>G | XP_016877277.1:p.Gln553= | |
| XR_001750598.2:n.3434A>G | ||
| XR_943560.2:n.3434A>G |