Revel Score:
ENST00000372880
0.857
ENST00000372855
0.857
ENST00000308731 (MANE Select)
0.857
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101354682A>T , CM000685.2:g.101354682A>T | GRCh38 |
| NC_000023.10:g.100609670A>T , CM000685.1:g.100609670A>T | GRCh37 |
| NC_000023.9:g.100496326A>T | NCBI36 |
| NG_009616.1:g.36543T>A , LRG_128:g.36543T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3096T>A | ||
| ENST00000488970.2:n.3094T>A | ||
| ENST00000695614.1:c.1579T>A | ENSP00000512053.1:p.Cys527Ser | |
| ENST00000695615.1:c.1579T>A | ENSP00000512054.1:p.Cys527Ser | |
| ENST00000695616.1:c.*1424T>A | ENSP00000512055.1:n.*1424T>A | |
| ENST00000695617.1:c.1576T>A | ENSP00000512056.1:p.Cys526Ser | |
| ENST00000695618.1:c.*1328T>A | ENSP00000512058.1:n.*1328T>A | |
| ENST00000695619.1:c.*1289T>A | ENSP00000512059.1:n.*1289T>A | |
| ENST00000695620.1:c.*1505T>A | ENSP00000512060.1:n.*1505T>A | |
| ENST00000695621.1:c.1579T>A | ENSP00000512061.1:p.Cys527Ser | |
| ENST00000695622.1:c.1516T>A | ENSP00000512062.1:p.Cys506Ser | |
| ENST00000695623.1:c.1573T>A | ENSP00000512063.1:p.Cys525Ser | |
| ENST00000695624.1:n.884T>A | ||
| ENST00000695625.1:c.1579T>A | ENSP00000512064.1:p.Cys527Ser | |
| ENST00000695626.1:c.334T>A | ENSP00000512065.1:n.334T>A | |
| ENST00000695627.1:c.580-694T>A | ENSP00000512066.1:n.580-694T>A | |
| ENST00000695628.1:c.191-694T>A | ENSP00000512067.1:n.191-694T>A | |
| ENST00000695629.1:c.191-1331T>A | ENSP00000512068.1:n.191-1331T>A | |
| ENST00000695630.1:c.359-694T>A | ||
| ENST00000695631.1:c.115-1434T>A | ||
| ENST00000695632.1:n.379T>A | ||
| ENST00000703407.1:c.1051T>A | ENSP00000512057.1:p.Cys351Ser | |
| ENST00000308731.8:c.1579T>A MANE Select | ENSP00000308176.8:p.Cys527Ser | |
| ENST00000308731.7:c.1579T>A | ENSP00000308176.7:p.Cys527Ser | |
| ENST00000372880.5:c.1051T>A | ENSP00000361971.1:p.Cys351Ser | |
| ENST00000618050.4:c.1579T>A | ENSP00000479125.1:p.Cys527Ser | |
| ENST00000621635.4:c.1681T>A | ENSP00000483570.1:p.Cys561Ser | |
| NM_000061.2:c.1579T>A , LRG_128t1:c.1579T>A | NP_000052.1:p.Cys527Ser | |
| NM_001287344.1:c.1681T>A | NP_001274273.1:p.Cys561Ser | |
| NM_001287345.1:c.1051T>A | NP_001274274.1:p.Cys351Ser | |
| NM_000061.3:c.1579T>A MANE Select | NP_000052.1:p.Cys527Ser | |
| NM_001287344.2:c.1681T>A | NP_001274273.1:p.Cys561Ser | |
| NM_001287345.2:c.1051T>A | NP_001274274.1:p.Cys351Ser |