Revel Score:
ENST00000322344 (MANE Select)
0.561
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49864376G>C , CM000681.2:g.49864376G>C | GRCh38 |
| NC_000019.9:g.50367633G>C , CM000681.1:g.50367633G>C | GRCh37 |
| NC_000019.8:g.55059445G>C | NCBI36 |
| NG_027717.1:g.8190C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.526C>G MANE Select | ENSP00000323511.2:p.Leu176Val | |
| ENST00000636214.1:c.*63C>G | ENSP00000489983.1:n.*63C>G | |
| ENST00000322344.7:c.526C>G | ENSP00000323511.2:p.Leu176Val | |
| ENST00000593946.5:c.*453C>G | ENSP00000468896.1:n.*453C>G | |
| ENST00000594661.5:n.940C>G | ||
| ENST00000596014.5:c.526C>G | ENSP00000472300.1:p.Leu176Val | |
| ENST00000596726.3:c.526C>G | ENSP00000470887.2:p.Leu176Val | |
| ENST00000599543.3:c.526C>G | ENSP00000469848.2:p.Leu176Val | |
| ENST00000600573.5:c.526C>G | ENSP00000469826.1:p.Leu176Val | |
| ENST00000600910.5:c.526C>G | ENSP00000473137.1:p.Leu176Val | |
| ENST00000627232.2:c.499-140C>G | ENSP00000486037.1:n.499-140C>G | |
| ENST00000627317.1:c.258-305C>G | ||
| ENST00000629179.1:n.210C>G | ||
| ENST00000631020.2:c.526C>G | ENSP00000486707.1:p.Leu176Val | |
| NM_007254.3:c.526C>G | NP_009185.2:p.Leu176Val | |
| NM_007254.4:c.526C>G MANE Select | NP_009185.2:p.Leu176Val |