Revel Score:
ENST00000356592
0.748
ENST00000414552
0.748
ENST00000361925
0.748
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162093940C>G , CM000667.2:g.162093940C>G | GRCh38 |
| NC_000005.9:g.161520946C>G , CM000667.1:g.161520946C>G | GRCh37 |
| NC_000005.8:g.161453524C>G | NCBI36 |
| NG_009290.1:g.31299C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.182C>G | ||
| ENST00000361925.9:c.220C>G | ENSP00000354651.5:p.Leu74Val | |
| ENST00000523372.2:c.303C>G | ||
| ENST00000638552.1:c.-66C>G | ENSP00000491763.1:n.-66C>G | |
| ENST00000638660.1:c.-66C>G | ENSP00000492869.1:n.-66C>G | |
| ENST00000638772.1:c.220C>G | ENSP00000491557.1:p.Leu74Val | |
| ENST00000638782.1:n.282C>G | ||
| ENST00000638877.1:c.159C>G | ||
| ENST00000639046.1:c.23-9949C>G | ENSP00000492659.1:n.23-9949C>G | |
| ENST00000639111.2:c.220C>G | ENSP00000492125.2:p.Leu74Val | |
| ENST00000639213.2:c.220C>G MANE Select | ENSP00000491909.2:p.Leu74Val | |
| ENST00000639278.1:c.148C>G | ENSP00000491958.1:p.Leu50Val | |
| ENST00000639384.1:c.220C>G | ENSP00000491240.1:p.Leu74Val | |
| ENST00000639424.1:c.107+25834C>G | ENSP00000491245.1:n.107+25834C>G | |
| ENST00000639549.1:n.444C>G | ||
| ENST00000639554.1:n.180C>G | ||
| ENST00000639683.1:c.154C>G | ENSP00000492581.1:p.Leu52Val | |
| ENST00000639975.1:c.154C>G | ENSP00000492096.1:p.Leu52Val | |
| ENST00000640574.1:c.-66C>G | ENSP00000491582.1:n.-66C>G | |
| ENST00000640739.1:n.180C>G | ||
| ENST00000640757.1:c.226C>G | ENSP00000492329.1:p.Leu76Val | |
| ENST00000640910.1:c.70-9949C>G | ||
| ENST00000640985.1:c.133C>G | ENSP00000492293.1:p.Leu45Val | |
| ENST00000641017.1:c.220C>G | ENSP00000493461.1:p.Leu74Val | |
| ENST00000356592.7:c.220C>G | ENSP00000349000.3:p.Leu74Val | |
| ENST00000361925.8:c.220C>G | ENSP00000354651.4:p.Leu74Val | |
| ENST00000414552.6:c.220C>G | ENSP00000410732.2:p.Leu74Val | |
| ENST00000522990.5:c.220C>G | ENSP00000430732.1:p.Leu74Val | |
| ENST00000523372.1:c.341C>G | ENSP00000430124.1:n.341C>G | |
| NM_000816.3:c.220C>G | NP_000807.2:p.Leu74Val | |
| NM_198903.2:c.220C>G | NP_944493.2:p.Leu74Val | |
| NM_198904.2:c.220C>G | NP_944494.1:p.Leu74Val | |
| NM_001375339.1:c.211C>G | NP_001362268.1:p.Leu71Val | |
| NM_001375340.1:c.220C>G | NP_001362269.1:p.Leu74Val | |
| NM_001375341.1:c.220C>G | NP_001362270.1:p.Leu74Val | |
| NM_001375342.1:c.220C>G | NP_001362271.1:p.Leu74Val | |
| NM_001375343.1:c.220C>G | NP_001362272.1:p.Leu74Val | |
| NM_001375344.1:c.220C>G | NP_001362273.1:p.Leu74Val | |
| NM_001375345.1:c.154C>G | NP_001362274.1:p.Leu52Val | |
| NM_001375346.1:c.154C>G | NP_001362275.1:p.Leu52Val | |
| NM_001375347.1:c.133C>G | NP_001362276.1:p.Leu45Val | |
| NM_001375348.1:c.-139C>G | NP_001362277.1:n.-139C>G | |
| NM_001375349.1:c.-66C>G | NP_001362278.1:n.-66C>G | |
| NM_001375350.1:c.-139C>G | NP_001362279.1:n.-139C>G | |
| NM_198904.3:c.220C>G | NP_944494.1:p.Leu74Val | |
| NM_198904.4:c.220C>G MANE Select | NP_944494.1:p.Leu74Val |