Revel Score:
ENST00000357162 (MANE Select)
0.783
ENST00000358544 (MANE Plus Clinical)
0.783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99717219T>G , CM000670.2:g.99717219T>G | GRCh38 |
| NC_000008.10:g.100729447T>G , CM000670.1:g.100729447T>G | GRCh37 |
| NC_000008.9:g.100798623T>G | NCBI36 |
| NG_007098.2:g.708954T>G , LRG_351:g.708954T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.6578T>G | ENSP00000507923.1:p.Leu2193Arg | |
| ENST00000682358.1:n.6648T>G | ||
| ENST00000683334.1:c.*2260T>G | ENSP00000507369.1:n.*2260T>G | |
| ENST00000357162.7:c.6503T>G MANE Select | ENSP00000349685.2:p.Leu2168Arg | |
| ENST00000358544.7:c.6578T>G MANE Plus Clinical | ENSP00000351346.2:p.Leu2193Arg | |
| ENST00000357162.6:c.6503T>G | ENSP00000349685.2:p.Leu2168Arg | |
| ENST00000358544.6:c.6578T>G | ENSP00000351346.2:p.Leu2193Arg | |
| NM_017890.4:c.6578T>G , LRG_351t1:c.6578T>G | NP_060360.3:p.Leu2193Arg | |
| NM_152564.4:c.6503T>G , LRG_351t2:c.6503T>G | NP_689777.3:p.Leu2168Arg | |
| XM_005250800.2:c.6578T>G | XP_005250857.1:p.Leu2193Arg | |
| XM_005250801.3:c.6578T>G | XP_005250858.1:p.Leu2193Arg | |
| XM_011516848.1:c.6575T>G | XP_011515150.1:p.Leu2192Arg | |
| XM_011516849.1:c.6500T>G | XP_011515151.1:p.Leu2167Arg | |
| XM_011516850.1:c.6200T>G | XP_011515152.1:p.Leu2067Arg | |
| XM_011516851.1:c.3464T>G | XP_011515153.1:p.Leu1155Arg | |
| XM_011516852.1:c.3464T>G | XP_011515154.1:p.Leu1155Arg | |
| XM_011516853.1:c.6578T>G | XP_011515155.1:p.Leu2193Arg | |
| XM_011516854.1:c.2357T>G | XP_011515156.1:p.Leu786Arg | |
| XM_005250800.3:c.6578T>G | XP_005250857.1:p.Leu2193Arg | |
| XM_005250801.5:c.6578T>G | XP_005250858.1:p.Leu2193Arg | |
| XM_011516848.2:c.6575T>G | XP_011515150.1:p.Leu2192Arg | |
| XM_011516849.2:c.6500T>G | XP_011515151.1:p.Leu2167Arg | |
| XM_011516850.2:c.6200T>G | XP_011515152.1:p.Leu2067Arg | |
| XM_011516851.2:c.3464T>G | XP_011515153.1:p.Leu1155Arg | |
| XM_011516852.2:c.3464T>G | XP_011515154.1:p.Leu1155Arg | |
| XM_011516853.2:c.6578T>G | XP_011515155.1:p.Leu2193Arg | |
| XM_011516854.2:c.2357T>G | XP_011515156.1:p.Leu786Arg | |
| XM_017013109.1:c.6383T>G | XP_016868598.1:p.Leu2128Arg | |
| XM_017013111.1:c.3464T>G | XP_016868600.1:p.Leu1155Arg | |
| XM_017013112.1:c.2135T>G | XP_016868601.1:p.Leu712Arg | |
| XM_024447074.1:c.5363T>G | XP_024302842.1:p.Leu1788Arg | |
| NM_017890.5:c.6578T>G MANE Plus Clinical | NP_060360.3:p.Leu2193Arg | |
| NM_152564.5:c.6503T>G MANE Select | NP_689777.3:p.Leu2168Arg |