Revel Score:
ENST00000328381 (MANE Select)
0.104
ENST00000535605
0.104
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000386 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30998749G>T , CM000679.2:g.30998749G>T | GRCh38 |
| NC_000017.10:g.29325767G>T , CM000679.1:g.29325767G>T | GRCh37 |
| NC_000017.9:g.26349893G>T | NCBI36 |
| NG_011701.1:g.32812G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328381.10:c.857G>T MANE Select | ENSP00000328340.5:p.Arg286Leu | |
| ENST00000324689.8:c.*61G>T | ENSP00000323693.4:n.*61G>T | |
| ENST00000328381.9:c.857G>T | ENSP00000328340.5:p.Arg286Leu | |
| ENST00000443677.6:c.*61G>T | ENSP00000411965.2:n.*61G>T | |
| ENST00000535306.6:c.*61G>T | ENSP00000440470.2:n.*61G>T | |
| NM_001184992.1:c.*61G>T | NP_001171921.1:n.*61G>T | |
| NM_032322.3:c.857G>T | NP_115698.3:p.Arg286Leu | |
| NM_197939.1:c.*61G>T | NP_922921.1:n.*61G>T | |
| XM_005258043.3:c.314G>T | XP_005258100.1:p.Arg105Leu | |
| XM_006722138.2:c.536G>T | XP_006722201.1:p.Arg179Leu | |
| XM_017025223.1:c.314G>T | XP_016880712.1:p.Arg105Leu | |
| XM_024451000.1:c.314G>T | XP_024306768.1:p.Arg105Leu | |
| XM_024451001.1:c.314G>T | XP_024306769.1:p.Arg105Leu | |
| XR_002958076.1:n.1190G>T | ||
| XR_002958077.1:n.1125G>T | ||
| XR_002958078.1:n.962G>T | ||
| NM_032322.4:c.857G>T MANE Select | NP_115698.3:p.Arg286Leu | |
| NM_001184992.2:c.*61G>T | NP_001171921.1:n.*61G>T | |
| NM_197939.2:c.*61G>T | NP_922921.1:n.*61G>T |