Revel Score:
ENST00000260947 (MANE Select)
0.046
ENST00000432456
0.046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728927C>G , CM000664.2:g.214728927C>G | GRCh38 |
| NC_000002.11:g.215593651C>G , CM000664.1:g.215593651C>G | GRCh37 |
| NC_000002.10:g.215301896C>G | NCBI36 |
| NG_012047.2:g.85778G>C | |
| NG_012047.3:g.85785G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2083G>C MANE Select | ENSP00000260947.4:p.Val695Leu | |
| ENST00000421162.2:c.730G>C | ENSP00000392245.2:p.Val244Leu | |
| ENST00000613192.2:c.*146G>C | ENSP00000483275.2:n.*146G>C | |
| ENST00000613374.5:c.673G>C | ENSP00000484464.1:p.Val225Leu | |
| ENST00000613706.5:c.1675G>C | ENSP00000484976.2:p.Val559Leu | |
| ENST00000617164.5:c.2026G>C | ENSP00000480470.1:p.Val676Leu | |
| ENST00000619009.5:c.544G>C | ENSP00000482293.1:p.Val182Leu | |
| ENST00000650978.1:c.3458G>C | ||
| ENST00000260947.8:c.2083G>C | ENSP00000260947.4:p.Val695Leu | |
| ENST00000432456.5:c.226G>C | ||
| ENST00000455743.5:c.*1703G>C | ENSP00000412186.1:n.*1703G>C | |
| ENST00000471590.5:n.418G>C | ||
| ENST00000613192.1:c.253G>C | ENSP00000483275.1:p.Val85Leu | |
| ENST00000613374.4:c.673G>C | ENSP00000484464.1:p.Val225Leu | |
| ENST00000613706.4:c.730G>C | ENSP00000484976.1:p.Val244Leu | |
| ENST00000617164.4:c.2026G>C | ENSP00000480470.1:p.Val676Leu | |
| ENST00000619009.4:c.544G>C | ENSP00000482293.1:p.Val182Leu | |
| ENST00000620057.4:c.*749G>C | ENSP00000481988.1:n.*749G>C | |
| NM_000465.3:c.2083G>C | NP_000456.2:p.Val695Leu | |
| NM_001282543.1:c.2026G>C | NP_001269472.1:p.Val676Leu | |
| NM_001282545.1:c.730G>C | NP_001269474.1:p.Val244Leu | |
| NM_001282548.1:c.673G>C | NP_001269477.1:p.Val225Leu | |
| NM_001282549.1:c.544G>C | NP_001269478.1:p.Val182Leu | |
| NR_104212.1:n.2076G>C | ||
| NR_104215.1:n.2019G>C | ||
| NR_104216.1:n.1275G>C | ||
| XM_011511567.1:c.2029G>C | XP_011509869.1:p.Val677Leu | |
| XM_017004613.1:c.2182G>C | XP_016860102.1:p.Val728Leu | |
| XR_002959322.1:n.2449G>C | ||
| NM_000465.4:c.2083G>C MANE Select | NP_000456.2:p.Val695Leu | |
| NM_001282543.2:c.2026G>C | NP_001269472.1:p.Val676Leu | |
| NM_001282545.2:c.730G>C | NP_001269474.1:p.Val244Leu | |
| NM_001282548.2:c.673G>C | NP_001269477.1:p.Val225Leu | |
| NM_001282549.2:c.544G>C | NP_001269478.1:p.Val182Leu | |
| NR_104212.2:n.2048G>C | ||
| NR_104215.2:n.1991G>C | ||
| NR_104216.2:n.1247G>C |