Revel Score:
ENST00000268638 (MANE Select)
0.978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.85909137A>G , CM000678.2:g.85909137A>G | GRCh38 |
| NC_000016.9:g.85942743A>G , CM000678.1:g.85942743A>G | GRCh37 |
| NC_000016.8:g.84500244A>G | NCBI36 |
| NG_029333.1:g.14970A>G , LRG_294:g.14970A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564803.6:c.322A>G | ENSP00000456992.2:p.Lys108Glu | |
| ENST00000566369.2:c.322A>G | ENSP00000455048.2:p.Lys108Glu | |
| ENST00000696884.1:c.322A>G | ENSP00000512951.1:p.Lys108Glu | |
| ENST00000696885.1:c.322A>G | ENSP00000512952.1:p.Lys108Glu | |
| ENST00000696886.1:n.372A>G | ||
| ENST00000696887.1:c.322A>G | ENSP00000512953.1:p.Lys108Glu | |
| ENST00000696888.1:n.371A>G | ||
| ENST00000696889.1:n.315A>G | ||
| ENST00000696890.1:n.269A>G | ||
| ENST00000268638.10:c.322A>G MANE Select | ENSP00000268638.4:p.Lys108Glu | |
| ENST00000268638.9:c.322A>G | ENSP00000268638.4:p.Lys108Glu | |
| ENST00000563180.1:c.322A>G | ENSP00000458047.1:p.Lys108Glu | |
| ENST00000564056.1:n.207A>G | ||
| ENST00000564617.5:c.322A>G | ENSP00000455784.1:p.Lys108Glu | |
| ENST00000564803.5:c.322A>G | ENSP00000456992.1:p.Lys108Glu | |
| ENST00000566369.1:c.150A>G | ||
| NM_002163.2:c.322A>G , LRG_294t1:c.322A>G | NP_002154.1:p.Lys108Glu | |
| NM_001363907.1:c.352A>G | NP_001350836.1:p.Lys118Glu | |
| NM_001363908.1:c.-185A>G | NP_001350837.1:n.-185A>G | |
| NM_002163.3:c.322A>G | NP_002154.1:p.Lys108Glu | |
| NM_002163.4:c.322A>G MANE Select | NP_002154.1:p.Lys108Glu |