Revel Score:
ENST00000434242
0.038
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001645 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30997289C>T , CM000679.2:g.30997289C>T | GRCh38 |
| NC_000017.10:g.29324307C>T , CM000679.1:g.29324307C>T | GRCh37 |
| NC_000017.9:g.26348433C>T | NCBI36 |
| NG_011701.1:g.31352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328381.10:c.727C>T MANE Select | ENSP00000328340.5:p.Gln243Ter | |
| ENST00000324689.8:c.564C>T | ENSP00000323693.4:p.Thr188= | |
| ENST00000328381.9:c.727C>T | ENSP00000328340.5:p.Gln243Ter | |
| ENST00000434242.2:c.143C>T | ||
| ENST00000443677.6:c.420C>T | ENSP00000411965.2:p.Thr140= | |
| ENST00000535306.6:c.792C>T | ENSP00000440470.2:p.Thr264= | |
| NM_001184992.1:c.792C>T | NP_001171921.1:p.Thr264= | |
| NM_032322.3:c.727C>T | NP_115698.3:p.Gln243Ter | |
| NM_197939.1:c.564C>T | NP_922921.1:p.Thr188= | |
| XM_005258043.3:c.184C>T | XP_005258100.1:p.Gln62Ter | |
| XM_006722138.2:c.406C>T | XP_006722201.1:p.Gln136Ter | |
| XM_017025223.1:c.184C>T | XP_016880712.1:p.Gln62Ter | |
| XM_024451000.1:c.184C>T | XP_024306768.1:p.Gln62Ter | |
| XM_024451001.1:c.184C>T | XP_024306769.1:p.Gln62Ter | |
| XR_002958076.1:n.854C>T | ||
| XR_002958077.1:n.789C>T | ||
| XR_002958078.1:n.626C>T | ||
| NM_032322.4:c.727C>T MANE Select | NP_115698.3:p.Gln243Ter | |
| NM_001184992.2:c.792C>T | NP_001171921.1:p.Thr264= | |
| NM_197939.2:c.564C>T | NP_922921.1:p.Thr188= |