Revel Score:
ENST00000255194 (MANE Select)
0.140
ENST00000519295
0.140
ENST00000535760
0.140
ENST00000535667
0.140
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94893284 (AFR)
Genomes Max Group AF
0.94493988 (AFR)
Exomes Max Group AF
0.94848382 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78129204A>T , CM000667.2:g.78129204A>T | GRCh38 |
| NC_000005.9:g.77425028A>T , CM000667.1:g.77425028A>T | GRCh37 |
| NC_000005.8:g.77460784A>T | NCBI36 |
| NG_007268.1:g.170501T>A , LRG_170:g.170501T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517561.2:c.1754T>A | ENSP00000511839.1:p.Val585Glu | |
| ENST00000517940.2:c.1754T>A | ENSP00000511881.1:p.Val585Glu | |
| ENST00000519295.6:c.1607T>A | ENSP00000430597.1:p.Val536Glu | |
| ENST00000519888.6:c.1754T>A | ENSP00000511880.1:p.Val585Glu | |
| ENST00000695447.1:c.1754T>A | ENSP00000511917.1:p.Val585Glu | |
| ENST00000695450.1:c.1168-12970T>A | ENSP00000511919.1:n.1168-12970T>A | |
| ENST00000695451.1:c.*1520T>A | ENSP00000511920.1:n.*1520T>A | |
| ENST00000695453.1:c.1697T>A | ENSP00000511921.1:p.Val566Glu | |
| ENST00000695454.1:c.1748T>A | ENSP00000511922.1:p.Val583Glu | |
| ENST00000695455.1:c.1607T>A | ENSP00000511923.1:p.Val536Glu | |
| ENST00000695488.1:c.1754T>A | ENSP00000511959.1:p.Val585Glu | |
| ENST00000695505.1:n.1912T>A | ||
| ENST00000695507.1:c.1754T>A | ENSP00000511970.1:p.Val585Glu | |
| ENST00000695510.1:c.1754T>A | ENSP00000511973.1:p.Val585Glu | |
| ENST00000695511.1:c.1754T>A | ENSP00000511974.1:p.Val585Glu | |
| ENST00000695512.1:c.1754T>A | ENSP00000511975.1:p.Val585Glu | |
| ENST00000695513.1:c.1619T>A | ENSP00000511976.1:p.Val540Glu | |
| ENST00000695514.1:c.1754T>A | ENSP00000511977.1:p.Val585Glu | |
| ENST00000695515.1:c.1754T>A | ENSP00000511978.1:p.Val585Glu | |
| ENST00000255194.11:c.1754T>A MANE Select | ENSP00000255194.7:p.Val585Glu | |
| ENST00000255194.10:c.1754T>A | ENSP00000255194.6:p.Val585Glu | |
| ENST00000517561.1:n.132T>A | ||
| ENST00000519295.5:c.1607T>A | ENSP00000430597.1:p.Val536Glu | |
| NM_001271769.1:c.1607T>A | NP_001258698.1:p.Val536Glu | |
| NM_003664.4:c.1754T>A , LRG_170t1:c.1754T>A | NP_003655.3:p.Val585Glu | |
| XM_005248618.2:c.1754T>A | XP_005248675.1:p.Val585Glu | |
| XM_005248619.3:c.1754T>A | XP_005248676.1:p.Val585Glu | |
| XM_005248618.4:c.1754T>A | XP_005248675.1:p.Val585Glu | |
| XM_005248619.5:c.1754T>A | XP_005248676.1:p.Val585Glu | |
| XM_017010001.1:c.1607T>A | XP_016865490.1:p.Val536Glu | |
| NM_001271769.2:c.1607T>A | NP_001258698.1:p.Val536Glu | |
| NM_003664.5:c.1754T>A MANE Select | NP_003655.3:p.Val585Glu |