Revel Score:
ENST00000309893
0.894
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00237031 (SAS)
Genomes Max Group AF
0.00082511 (SAS)
Exomes Max Group AF
0.00241754 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.87891852C>T , CM000678.2:g.87891852C>T | GRCh38 |
| NC_000016.9:g.87925458C>T , CM000678.1:g.87925458C>T | GRCh37 |
| NC_000016.8:g.86482959C>T | NCBI36 |
| NG_033227.1:g.49655G>A | |
| NG_033227.2:g.49678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648022.1:c.*160G>A | ENSP00000497934.1:n.*160G>A | |
| ENST00000648177.1:c.539G>A | ENSP00000497626.1:p.Arg180Gln | |
| ENST00000649158.1:c.721G>A | ENSP00000496993.1:p.Glu241Lys | |
| ENST00000649794.3:c.721G>A MANE Select | ENSP00000498065.2:p.Glu241Lys | |
| ENST00000309893.3:c.721G>A | ENSP00000309649.2:p.Glu241Lys | |
| ENST00000566402.2:n.417G>A | ||
| NM_001739.1:c.721G>A | NP_001730.1:p.Glu241Lys | |
| NM_001739.2:c.721G>A MANE Select | NP_001730.1:p.Glu241Lys | |
| XM_017023646.1:c.721G>A | XP_016879135.1:p.Glu241Lys | |
| XM_024450434.1:c.343G>A | XP_024306202.1:p.Glu115Lys | |
| XR_002957839.1:n.954G>A | ||
| NM_001367225.1:c.721G>A | NP_001354154.1:p.Glu241Lys | |
| NR_159798.1:n.908G>A | ||
| NR_159799.1:n.681G>A |