Revel Score:
ENST00000237014 (MANE Select)
0.855
ENST00000432547
0.855
ENST00000541025
0.855
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592975T>G , CM000680.2:g.31592975T>G | GRCh38 |
| NC_000018.9:g.29172938T>G , CM000680.1:g.29172938T>G | GRCh37 |
| NC_000018.8:g.27426936T>G | NCBI36 |
| NG_009490.1:g.6209T>G , LRG_416:g.6209T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.149T>G MANE Select | ENSP00000237014.4:p.Val50Gly | |
| ENST00000610404.5:c.53T>G | ENSP00000477599.2:p.Val18Gly | |
| ENST00000649620.1:c.149T>G | ENSP00000497927.1:p.Val50Gly | |
| ENST00000237014.7:c.149T>G | ENSP00000237014.3:p.Val50Gly | |
| ENST00000432547.7:n.175T>G | ||
| ENST00000541025.2:n.175T>G | ||
| ENST00000610404.4:c.149T>G | ENSP00000477599.1:p.Val50Gly | |
| ENST00000613781.1:c.149T>G | ENSP00000479174.1:p.Val50Gly | |
| NM_000371.3:c.149T>G , LRG_416t1:c.149T>G | NP_000362.1:p.Val50Gly | |
| NM_000371.4:c.149T>G MANE Select | NP_000362.1:p.Val50Gly |