Revel Score:
ENST00000344683 (MANE Select)
0.073
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6480784A>T , CM000670.2:g.6480784A>T | GRCh38 |
| NC_000008.10:g.6338305A>T , CM000670.1:g.6338305A>T | GRCh37 |
| NC_000008.9:g.6325713A>T | NCBI36 |
| NG_016619.1:g.79193A>T | |
| NG_016619.2:g.79193A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519221.6:n.270A>T | ||
| ENST00000521129.2:c.91A>T | ENSP00000509664.1:p.Thr31Ser | |
| ENST00000521175.2:n.767A>T | ||
| ENST00000522020.2:n.52-13340A>T | ||
| ENST00000687324.1:n.982A>T | ||
| ENST00000687413.1:c.133A>T | ENSP00000510583.1:p.Thr45Ser | |
| ENST00000687720.1:c.*1992A>T | ENSP00000510728.1:n.*1992A>T | |
| ENST00000688101.1:c.2201A>T | ||
| ENST00000688388.1:c.*33A>T | ENSP00000510092.1:n.*33A>T | |
| ENST00000688912.1:n.2055A>T | ||
| ENST00000689148.1:n.1004A>T | ||
| ENST00000689348.1:c.2044A>T | ENSP00000509554.1:p.Thr682Ser | |
| ENST00000689633.1:c.1935+25532A>T | ENSP00000509054.1:n.1935+25532A>T | |
| ENST00000689736.1:c.781-19068A>T | ENSP00000509722.1:n.781-19068A>T | |
| ENST00000690159.1:c.*2323A>T | ENSP00000510482.1:n.*2323A>T | |
| ENST00000690708.1:c.889A>T | ENSP00000510400.1:p.Thr297Ser | |
| ENST00000690826.1:c.2044A>T | ENSP00000510536.1:p.Thr682Ser | |
| ENST00000691435.1:c.2044A>T | ENSP00000510652.1:p.Thr682Ser | |
| ENST00000691655.1:c.*981A>T | ENSP00000509652.1:n.*981A>T | |
| ENST00000692836.1:c.2044A>T | ENSP00000509971.1:p.Thr682Ser | |
| ENST00000692938.1:c.2044A>T | ENSP00000509072.1:p.Thr682Ser | |
| ENST00000693231.1:c.*1675+25532A>T | ENSP00000510764.1:n.*1675+25532A>T | |
| ENST00000693528.1:n.277A>T | ||
| ENST00000344683.10:c.2044A>T MANE Select | ENSP00000342924.5:p.Thr682Ser | |
| ENST00000344683.9:c.2044A>T | ENSP00000342924.5:p.Thr682Ser | |
| ENST00000519221.5:n.151A>T | ||
| ENST00000521129.1:n.202A>T | ||
| ENST00000522020.1:n.52-13340A>T | ||
| NM_024596.3:c.2044A>T | NP_078872.2:p.Thr682Ser | |
| XM_011534755.1:c.2044A>T | XP_011533057.1:p.Thr682Ser | |
| XM_011534756.1:c.2044A>T | XP_011533058.1:p.Thr682Ser | |
| XM_011534757.1:c.2044A>T | XP_011533059.1:p.Thr682Ser | |
| XM_011534758.1:c.2044A>T | XP_011533060.1:p.Thr682Ser | |
| XM_011534759.1:c.2044A>T | XP_011533061.1:p.Thr682Ser | |
| XM_011534760.1:c.1519A>T | XP_011533062.1:p.Thr507Ser | |
| NM_001322042.1:c.2044A>T | NP_001308971.1:p.Thr682Ser | |
| NM_001363979.1:c.2044A>T | NP_001350908.1:p.Thr682Ser | |
| NM_001363980.1:c.1935+25532A>T | NP_001350909.1:n.1935+25532A>T | |
| NM_024596.4:c.2044A>T | NP_078872.2:p.Thr682Ser | |
| XM_011534755.3:c.2044A>T | XP_011533057.1:p.Thr682Ser | |
| XM_011534756.3:c.2044A>T | XP_011533058.1:p.Thr682Ser | |
| XM_011534757.3:c.2044A>T | XP_011533059.1:p.Thr682Ser | |
| XM_011534758.3:c.2044A>T | XP_011533060.1:p.Thr682Ser | |
| XM_011534759.3:c.2044A>T | XP_011533061.1:p.Thr682Ser | |
| XM_011534760.2:c.1519A>T | XP_011533062.1:p.Thr507Ser | |
| XM_017013829.2:c.2044A>T | XP_016869318.1:p.Thr682Ser | |
| XM_017013831.2:c.1936-19068A>T | XP_016869320.1:n.1936-19068A>T | |
| XM_017013832.2:c.1935+25532A>T | XP_016869321.1:n.1935+25532A>T | |
| XM_017013833.2:c.2044A>T | XP_016869322.1:p.Thr682Ser | |
| XR_001745596.2:n.2097A>T | ||
| NM_024596.5:c.2044A>T MANE Select | NP_078872.3:p.Thr682Ser | |
| NM_001322042.2:c.2044A>T | NP_001308971.2:p.Thr682Ser | |
| NM_001363980.2:c.1935+25532A>T | NP_001350909.1:n.1935+25532A>T |