Revel Score:
ENST00000260947 (MANE Select)
0.072
ENST00000432456
0.072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728687G>A , CM000664.2:g.214728687G>A | GRCh38 |
| NC_000002.11:g.215593411G>A , CM000664.1:g.215593411G>A | GRCh37 |
| NC_000002.10:g.215301656G>A | NCBI36 |
| NG_012047.2:g.86018C>T | |
| NG_012047.3:g.86025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2323C>T MANE Select | ENSP00000260947.4:p.Leu775Phe | |
| ENST00000421162.2:c.970C>T | ENSP00000392245.2:p.Leu324Phe | |
| ENST00000613192.2:c.*386C>T | ENSP00000483275.2:n.*386C>T | |
| ENST00000613374.5:c.913C>T | ENSP00000484464.1:p.Leu305Phe | |
| ENST00000613706.5:c.1915C>T | ENSP00000484976.2:p.Leu639Phe | |
| ENST00000617164.5:c.2266C>T | ENSP00000480470.1:p.Leu756Phe | |
| ENST00000619009.5:c.784C>T | ENSP00000482293.1:p.Leu262Phe | |
| ENST00000650978.1:c.3698C>T | ||
| ENST00000260947.8:c.2323C>T | ENSP00000260947.4:p.Leu775Phe | |
| ENST00000432456.5:c.466C>T | ||
| ENST00000471590.5:n.658C>T | ||
| ENST00000613192.1:c.493C>T | ENSP00000483275.1:p.Leu165Phe | |
| ENST00000613374.4:c.913C>T | ENSP00000484464.1:p.Leu305Phe | |
| ENST00000613706.4:c.970C>T | ENSP00000484976.1:p.Leu324Phe | |
| ENST00000617164.4:c.2266C>T | ENSP00000480470.1:p.Leu756Phe | |
| ENST00000619009.4:c.784C>T | ENSP00000482293.1:p.Leu262Phe | |
| ENST00000620057.4:c.*989C>T | ENSP00000481988.1:n.*989C>T | |
| NM_000465.3:c.2323C>T | NP_000456.2:p.Leu775Phe | |
| NM_001282543.1:c.2266C>T | NP_001269472.1:p.Leu756Phe | |
| NM_001282545.1:c.970C>T | NP_001269474.1:p.Leu324Phe | |
| NM_001282548.1:c.913C>T | NP_001269477.1:p.Leu305Phe | |
| NM_001282549.1:c.784C>T | NP_001269478.1:p.Leu262Phe | |
| NR_104212.1:n.2316C>T | ||
| NR_104215.1:n.2259C>T | ||
| NR_104216.1:n.1515C>T | ||
| XM_011511567.1:c.2269C>T | XP_011509869.1:p.Leu757Phe | |
| XM_017004613.1:c.2422C>T | XP_016860102.1:p.Leu808Phe | |
| XR_002959322.1:n.2689C>T | ||
| NM_000465.4:c.2323C>T MANE Select | NP_000456.2:p.Leu775Phe | |
| NM_001282543.2:c.2266C>T | NP_001269472.1:p.Leu756Phe | |
| NM_001282545.2:c.970C>T | NP_001269474.1:p.Leu324Phe | |
| NM_001282548.2:c.913C>T | NP_001269477.1:p.Leu305Phe | |
| NM_001282549.2:c.784C>T | NP_001269478.1:p.Leu262Phe | |
| NR_104212.2:n.2288C>T | ||
| NR_104215.2:n.2231C>T | ||
| NR_104216.2:n.1487C>T |