Revel Score:
ENST00000237014 (MANE Select)
0.572
ENST00000432547
0.572
ENST00000541025
0.572
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595221C>T , CM000680.2:g.31595221C>T | GRCh38 |
| NC_000018.9:g.29175184C>T , CM000680.1:g.29175184C>T | GRCh37 |
| NC_000018.8:g.27429182C>T | NCBI36 |
| NG_009490.1:g.8455C>T , LRG_416:g.8455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.302C>T MANE Select | ENSP00000237014.4:p.Ala101Val | |
| ENST00000610404.5:c.206C>T | ENSP00000477599.2:p.Ala69Val | |
| ENST00000649620.1:c.302C>T | ENSP00000497927.1:p.Ala101Val | |
| ENST00000237014.7:c.302C>T | ENSP00000237014.3:p.Ala101Val | |
| ENST00000541025.2:n.328C>T | ||
| ENST00000610404.4:c.302C>T | ENSP00000477599.1:p.Ala101Val | |
| ENST00000613781.1:c.302C>T | ENSP00000479174.1:p.Ala101Val | |
| NM_000371.3:c.302C>T , LRG_416t1:c.302C>T | NP_000362.1:p.Ala101Val | |
| NM_000371.4:c.302C>T MANE Select | NP_000362.1:p.Ala101Val |