Revel Score:
ENST00000457016
0.578
ENST00000257430 (MANE Select)
0.578
ENST00000508376
0.578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841717A>T , CM000667.2:g.112841717A>T | GRCh38 |
| NC_000005.9:g.112177414A>T , CM000667.1:g.112177414A>T | GRCh37 |
| NC_000005.8:g.112205313A>T | NCBI36 |
| NG_008481.4:g.154197A>T , LRG_130:g.154197A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6177A>T | ENSP00000473355.2:p.Glu2059Asp | |
| ENST00000505350.2:c.*6129A>T | ENSP00000481752.1:n.*6129A>T | |
| ENST00000507379.6:c.6069A>T | ENSP00000423224.2:p.Glu2023Asp | |
| ENST00000509732.6:c.6123A>T | ENSP00000426541.2:p.Glu2041Asp | |
| ENST00000512211.7:c.6123A>T | ENSP00000423828.3:p.Glu2041Asp | |
| ENST00000257430.9:c.6123A>T MANE Select | ENSP00000257430.4:p.Glu2041Asp | |
| ENST00000257430.8:c.6123A>T | ENSP00000257430.4:p.Glu2041Asp | |
| ENST00000508376.6:c.6123A>T | ENSP00000427089.2:p.Glu2041Asp | |
| ENST00000508624.5:c.*5445A>T | ENSP00000424265.1:n.*5445A>T | |
| ENST00000520401.1:c.230+12745A>T | ||
| NM_000038.5:c.6123A>T | NP_000029.2:p.Glu2041Asp | |
| NM_001127510.2:c.6123A>T | NP_001120982.1:p.Glu2041Asp | |
| NM_001127511.2:c.6069A>T | NP_001120983.2:p.Glu2023Asp | |
| NM_001354895.1:c.6123A>T | NP_001341824.1:p.Glu2041Asp | |
| NM_001354896.1:c.6177A>T | NP_001341825.1:p.Glu2059Asp | |
| NM_001354897.1:c.6153A>T | NP_001341826.1:p.Glu2051Asp | |
| NM_001354898.1:c.6048A>T | NP_001341827.1:p.Glu2016Asp | |
| NM_001354899.1:c.6039A>T | NP_001341828.1:p.Glu2013Asp | |
| NM_001354900.1:c.6000A>T | NP_001341829.1:p.Glu2000Asp | |
| NM_001354901.1:c.5946A>T | NP_001341830.1:p.Glu1982Asp | |
| NM_001354902.1:c.5850A>T | NP_001341831.1:p.Glu1950Asp | |
| NM_001354903.1:c.5820A>T | NP_001341832.1:p.Glu1940Asp | |
| NM_001354904.1:c.5745A>T | NP_001341833.1:p.Glu1915Asp | |
| NM_001354905.1:c.5643A>T | NP_001341834.1:p.Glu1881Asp | |
| NM_001354906.1:c.5274A>T | NP_001341835.1:p.Glu1758Asp | |
| NM_000038.6:c.6123A>T MANE Select | NP_000029.2:p.Glu2041Asp | |
| NM_001127510.3:c.6123A>T | NP_001120982.1:p.Glu2041Asp | |
| NM_001127511.3:c.6069A>T | NP_001120983.2:p.Glu2023Asp | |
| NM_001354895.2:c.6123A>T | NP_001341824.1:p.Glu2041Asp | |
| NM_001354896.2:c.6177A>T | NP_001341825.1:p.Glu2059Asp | |
| NM_001354897.2:c.6153A>T | NP_001341826.1:p.Glu2051Asp | |
| NM_001354898.2:c.6048A>T | NP_001341827.1:p.Glu2016Asp | |
| NM_001354899.2:c.6039A>T | NP_001341828.1:p.Glu2013Asp | |
| NM_001354900.2:c.6000A>T | NP_001341829.1:p.Glu2000Asp | |
| NM_001354901.2:c.5946A>T | NP_001341830.1:p.Glu1982Asp | |
| NM_001354902.2:c.5850A>T | NP_001341831.1:p.Glu1950Asp | |
| NM_001354903.2:c.5820A>T | NP_001341832.1:p.Glu1940Asp | |
| NM_001354904.2:c.5745A>T | NP_001341833.1:p.Glu1915Asp | |
| NM_001354905.2:c.5643A>T | NP_001341834.1:p.Glu1881Asp | |
| NM_001354906.2:c.5274A>T | NP_001341835.1:p.Glu1758Asp |