Revel Score:
ENST00000302326 (MANE Select)
0.330
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750933G>C , CM000684.2:g.27750933G>C | GRCh38 |
| NC_000022.10:g.28146921G>C , CM000684.1:g.28146921G>C | GRCh37 |
| NC_000022.9:g.26476921G>C | NCBI36 |
| NG_023258.1:g.55566C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.470C>G | ||
| ENST00000302326.5:c.3945C>G MANE Select | ENSP00000304956.4:p.Phe1315Leu | |
| ENST00000302326.4:c.3945C>G | ENSP00000304956.4:p.Phe1315Leu | |
| ENST00000424656.1:c.298C>G | ||
| ENST00000497225.1:n.301C>G | ||
| NM_002430.2:c.3945C>G | NP_002421.3:p.Phe1315Leu | |
| NM_002430.3:c.3945C>G MANE Select | NP_002421.3:p.Phe1315Leu |