Revel Score:
ENST00000534687
0.388
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005628 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00005623 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118340447G>A , CM000673.2:g.118340447G>A | GRCh38 |
| NC_000011.9:g.118211162G>A , CM000673.1:g.118211162G>A | GRCh37 |
| NC_000011.8:g.117716372G>A | NCBI36 |
| NG_007566.1:g.1104G>A , LRG_39:g.1104G>A | |
| NG_009891.1:g.7298C>T , LRG_37:g.7298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.221C>T | ||
| ENST00000695667.1:n.207C>T | ||
| ENST00000695668.1:n.2187C>T | ||
| ENST00000300692.9:c.202C>T MANE Select | ENSP00000300692.4:p.Arg68Ter | |
| ENST00000300692.8:c.202C>T | ENSP00000300692.4:p.Arg68Ter | |
| ENST00000392884.2:c.202C>T | ENSP00000376622.2:p.Arg68Ter | |
| ENST00000526561.1:n.80-953C>T | ||
| ENST00000529594.5:c.56-541C>T | ENSP00000437335.1:n.56-541C>T | |
| ENST00000534687.5:c.215C>T | ||
| NM_000732.4:c.202C>T , LRG_37t1:c.202C>T | NP_000723.1:p.Arg68Ter | |
| NM_001040651.1:c.202C>T | NP_001035741.1:p.Arg68Ter | |
| NM_001040651.2:c.202C>T | NP_001035741.1:p.Arg68Ter | |
| NM_000732.6:c.202C>T MANE Select | NP_000723.1:p.Arg68Ter |