Revel Score:
ENST00000255194 (MANE Select)
0.425
ENST00000519295
0.425
ENST00000535760
0.425
ENST00000535667
0.425
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78181545T>C , CM000667.2:g.78181545T>C | GRCh38 |
| NC_000005.9:g.77477369T>C , CM000667.1:g.77477369T>C | GRCh37 |
| NC_000005.8:g.77513125T>C | NCBI36 |
| NG_007268.1:g.118160A>G , LRG_170:g.118160A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517561.2:c.904A>G | ENSP00000511839.1:p.Arg302Gly | |
| ENST00000517940.2:c.904A>G | ENSP00000511881.1:p.Arg302Gly | |
| ENST00000519295.6:c.757A>G | ENSP00000430597.1:p.Arg253Gly | |
| ENST00000519888.6:c.904A>G | ENSP00000511880.1:p.Arg302Gly | |
| ENST00000695447.1:c.904A>G | ENSP00000511917.1:p.Arg302Gly | |
| ENST00000695449.1:c.*949A>G | ENSP00000511918.1:n.*949A>G | |
| ENST00000695450.1:c.904A>G | ENSP00000511919.1:p.Arg302Gly | |
| ENST00000695451.1:c.*584A>G | ENSP00000511920.1:n.*584A>G | |
| ENST00000695452.1:n.1025A>G | ||
| ENST00000695453.1:c.904A>G | ENSP00000511921.1:p.Arg302Gly | |
| ENST00000695454.1:c.904A>G | ENSP00000511922.1:p.Arg302Gly | |
| ENST00000695455.1:c.757A>G | ENSP00000511923.1:p.Arg253Gly | |
| ENST00000695488.1:c.904A>G | ENSP00000511959.1:p.Arg302Gly | |
| ENST00000695505.1:n.1062A>G | ||
| ENST00000695507.1:c.904A>G | ENSP00000511970.1:p.Arg302Gly | |
| ENST00000695510.1:c.904A>G | ENSP00000511973.1:p.Arg302Gly | |
| ENST00000695511.1:c.904A>G | ENSP00000511974.1:p.Arg302Gly | |
| ENST00000695512.1:c.904A>G | ENSP00000511975.1:p.Arg302Gly | |
| ENST00000695513.1:c.769A>G | ENSP00000511976.1:p.Arg257Gly | |
| ENST00000695514.1:c.904A>G | ENSP00000511977.1:p.Arg302Gly | |
| ENST00000695515.1:c.904A>G | ENSP00000511978.1:p.Arg302Gly | |
| ENST00000695540.1:n.1060A>G | ||
| ENST00000255194.11:c.904A>G MANE Select | ENSP00000255194.7:p.Arg302Gly | |
| ENST00000255194.10:c.904A>G | ENSP00000255194.6:p.Arg302Gly | |
| ENST00000519295.5:c.757A>G | ENSP00000430597.1:p.Arg253Gly | |
| NM_001271769.1:c.757A>G | NP_001258698.1:p.Arg253Gly | |
| NM_003664.4:c.904A>G , LRG_170t1:c.904A>G | NP_003655.3:p.Arg302Gly | |
| XM_005248618.2:c.904A>G | XP_005248675.1:p.Arg302Gly | |
| XM_005248619.3:c.904A>G | XP_005248676.1:p.Arg302Gly | |
| XM_005248618.4:c.904A>G | XP_005248675.1:p.Arg302Gly | |
| XM_005248619.5:c.904A>G | XP_005248676.1:p.Arg302Gly | |
| XM_017010001.1:c.757A>G | XP_016865490.1:p.Arg253Gly | |
| NM_001271769.2:c.757A>G | NP_001258698.1:p.Arg253Gly | |
| NM_003664.5:c.904A>G MANE Select | NP_003655.3:p.Arg302Gly |