Revel Score:
ENST00000375448 (MANE Select)
0.404
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17336167T>G , CM000663.2:g.17336167T>G | GRCh38 |
| NC_000001.10:g.17662662T>G , CM000663.1:g.17662662T>G | GRCh37 |
| NC_000001.9:g.17535249T>G | NCBI36 |
| NG_023261.2:g.32978T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.349T>G MANE Select | ENSP00000364597.4:p.Leu117Val | |
| NM_012387.2:c.349T>G | NP_036519.2:p.Leu117Val | |
| XM_011541150.1:c.340+2158T>G | XP_011539452.1:n.340+2158T>G | |
| XM_011541151.1:c.349T>G | XP_011539453.1:p.Leu117Val | |
| XM_011541152.1:c.-71T>G | XP_011539454.1:n.-71T>G | |
| XM_011541153.1:c.349T>G | XP_011539455.1:p.Leu117Val | |
| XM_011541154.1:c.349T>G | XP_011539456.1:p.Leu117Val | |
| XM_011541155.1:c.349T>G | XP_011539457.1:p.Leu117Val | |
| XM_011541156.1:c.349T>G | XP_011539458.1:p.Leu117Val | |
| XM_011541157.1:c.-364T>G | XP_011539459.1:n.-364T>G | |
| XM_011541154.2:c.349T>G | XP_011539456.1:p.Leu117Val | |
| NM_012387.3:c.349T>G MANE Select | NP_036519.2:p.Leu117Val |