Revel Score:
ENST00000268261 (MANE Select)
0.801
ENST00000539622
0.801
ENST00000537352
0.801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847753C>G , CM000678.2:g.8847753C>G | GRCh38 |
| NC_000016.9:g.8941610C>G , CM000678.1:g.8941610C>G | GRCh37 |
| NC_000016.8:g.8849111C>G | NCBI36 |
| NG_009209.1:g.54941C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567697.2:n.3837C>G | ||
| ENST00000682393.1:c.*258-1616C>G | ENSP00000506774.1:n.*258-1616C>G | |
| ENST00000683094.1:c.*262-1616C>G | ENSP00000508230.1:n.*262-1616C>G | |
| ENST00000683274.1:c.*180-1616C>G | ENSP00000507262.1:n.*180-1616C>G | |
| ENST00000683435.1:c.*565C>G | ENSP00000508092.1:n.*565C>G | |
| ENST00000268261.9:c.669C>G MANE Select | ENSP00000268261.4:p.Asp223Glu | |
| ENST00000268261.8:c.669C>G | ENSP00000268261.4:p.Asp223Glu | |
| ENST00000562025.1:n.203C>G | ||
| ENST00000562318.5:c.*391C>G | ENSP00000454395.1:n.*391C>G | |
| ENST00000565221.5:c.*287C>G | ENSP00000457932.1:n.*287C>G | |
| ENST00000566540.5:c.*291C>G | ENSP00000454284.1:n.*291C>G | |
| ENST00000566604.5:c.*209C>G | ENSP00000456774.1:n.*209C>G | |
| ENST00000566983.5:c.588C>G | ENSP00000457956.1:p.Asp196Glu | |
| ENST00000567697.1:n.3837C>G | ||
| ENST00000569958.5:c.396C>G | ENSP00000456302.1:p.Asp132Glu | |
| ENST00000570076.5:c.*127C>G | ENSP00000456961.1:n.*127C>G | |
| NM_000303.2:c.669C>G | NP_000294.1:p.Asp223Glu | |
| XM_005255374.3:c.420C>G | XP_005255431.1:p.Asp140Glu | |
| XM_011522538.1:c.640-7281C>G | XP_011520840.1:n.640-7281C>G | |
| XM_005255374.4:c.420C>G | XP_005255431.1:p.Asp140Glu | |
| NM_000303.3:c.669C>G MANE Select | NP_000294.1:p.Asp223Glu |