Revel Score:
ENST00000543831
0.830
ENST00000433745
0.830
ENST00000369416 (MANE Select)
0.830
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119415448C>T , CM000663.2:g.119415448C>T | GRCh38 |
| NC_000001.10:g.119958071C>T , CM000663.1:g.119958071C>T | GRCh37 |
| NC_000001.9:g.119759594C>T | NCBI36 |
| NG_013349.1:g.5518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.29C>T MANE Select | ENSP00000358424.3:p.Ala10Val | |
| ENST00000369416.3:c.29C>T | ENSP00000358424.3:p.Ala10Val | |
| ENST00000433745.5:c.29C>T | ENSP00000388292.1:p.Ala10Val | |
| ENST00000443865.2:n.158C>T | ||
| ENST00000471656.5:n.170C>T | ||
| ENST00000543831.5:c.29C>T | ENSP00000445122.1:p.Ala10Val | |
| NM_000198.3:c.29C>T | NP_000189.1:p.Ala10Val | |
| NM_001166120.1:c.29C>T | NP_001159592.1:p.Ala10Val | |
| NM_000198.4:c.29C>T MANE Select | NP_000189.1:p.Ala10Val | |
| NM_001166120.2:c.29C>T | NP_001159592.1:p.Ala10Val |