Revel Score:
ENST00000237014 (MANE Select)
0.970
ENST00000432547
0.970
ENST00000541025
0.970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592939A>G , CM000680.2:g.31592939A>G | GRCh38 |
| NC_000018.9:g.29172902A>G , CM000680.1:g.29172902A>G | GRCh37 |
| NC_000018.8:g.27426900A>G | NCBI36 |
| NG_009490.1:g.6173A>G , LRG_416:g.6173A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.113A>G MANE Select | ENSP00000237014.4:p.Asp38Gly | |
| ENST00000610404.5:c.17A>G | ENSP00000477599.2:p.Asp6Gly | |
| ENST00000649620.1:c.113A>G | ENSP00000497927.1:p.Asp38Gly | |
| ENST00000237014.7:c.113A>G | ENSP00000237014.3:p.Asp38Gly | |
| ENST00000432547.7:n.139A>G | ||
| ENST00000541025.2:n.139A>G | ||
| ENST00000610404.4:c.113A>G | ENSP00000477599.1:p.Asp38Gly | |
| ENST00000613781.1:c.113A>G | ENSP00000479174.1:p.Asp38Gly | |
| NM_000371.3:c.113A>G , LRG_416t1:c.113A>G | NP_000362.1:p.Asp38Gly | |
| NM_000371.4:c.113A>G MANE Select | NP_000362.1:p.Asp38Gly |