Revel Score:
ENST00000260947 (MANE Select)
0.166
ENST00000432456
0.166
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728927C>A , CM000664.2:g.214728927C>A | GRCh38 |
| NC_000002.11:g.215593651C>A , CM000664.1:g.215593651C>A | GRCh37 |
| NC_000002.10:g.215301896C>A | NCBI36 |
| NG_012047.2:g.85778G>T | |
| NG_012047.3:g.85785G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2083G>T MANE Select | ENSP00000260947.4:p.Val695Phe | |
| ENST00000421162.2:c.730G>T | ENSP00000392245.2:p.Val244Phe | |
| ENST00000613192.2:c.*146G>T | ENSP00000483275.2:n.*146G>T | |
| ENST00000613374.5:c.673G>T | ENSP00000484464.1:p.Val225Phe | |
| ENST00000613706.5:c.1675G>T | ENSP00000484976.2:p.Val559Phe | |
| ENST00000617164.5:c.2026G>T | ENSP00000480470.1:p.Val676Phe | |
| ENST00000619009.5:c.544G>T | ENSP00000482293.1:p.Val182Phe | |
| ENST00000650978.1:c.3458G>T | ||
| ENST00000260947.8:c.2083G>T | ENSP00000260947.4:p.Val695Phe | |
| ENST00000432456.5:c.226G>T | ||
| ENST00000455743.5:c.*1703G>T | ENSP00000412186.1:n.*1703G>T | |
| ENST00000471590.5:n.418G>T | ||
| ENST00000613192.1:c.253G>T | ENSP00000483275.1:p.Val85Phe | |
| ENST00000613374.4:c.673G>T | ENSP00000484464.1:p.Val225Phe | |
| ENST00000613706.4:c.730G>T | ENSP00000484976.1:p.Val244Phe | |
| ENST00000617164.4:c.2026G>T | ENSP00000480470.1:p.Val676Phe | |
| ENST00000619009.4:c.544G>T | ENSP00000482293.1:p.Val182Phe | |
| ENST00000620057.4:c.*749G>T | ENSP00000481988.1:n.*749G>T | |
| NM_000465.3:c.2083G>T | NP_000456.2:p.Val695Phe | |
| NM_001282543.1:c.2026G>T | NP_001269472.1:p.Val676Phe | |
| NM_001282545.1:c.730G>T | NP_001269474.1:p.Val244Phe | |
| NM_001282548.1:c.673G>T | NP_001269477.1:p.Val225Phe | |
| NM_001282549.1:c.544G>T | NP_001269478.1:p.Val182Phe | |
| NR_104212.1:n.2076G>T | ||
| NR_104215.1:n.2019G>T | ||
| NR_104216.1:n.1275G>T | ||
| XM_011511567.1:c.2029G>T | XP_011509869.1:p.Val677Phe | |
| XM_017004613.1:c.2182G>T | XP_016860102.1:p.Val728Phe | |
| XR_002959322.1:n.2449G>T | ||
| NM_000465.4:c.2083G>T MANE Select | NP_000456.2:p.Val695Phe | |
| NM_001282543.2:c.2026G>T | NP_001269472.1:p.Val676Phe | |
| NM_001282545.2:c.730G>T | NP_001269474.1:p.Val244Phe | |
| NM_001282548.2:c.673G>T | NP_001269477.1:p.Val225Phe | |
| NM_001282549.2:c.544G>T | NP_001269478.1:p.Val182Phe | |
| NR_104212.2:n.2048G>T | ||
| NR_104215.2:n.1991G>T | ||
| NR_104216.2:n.1247G>T |