Revel Score:
ENST00000368508
0.898
ENST00000368507 (MANE Select)
0.898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117317240A>C , CM000668.2:g.117317240A>C | GRCh38 |
| NC_000006.11:g.117638403A>C , CM000668.1:g.117638403A>C | GRCh37 |
| NC_000006.10:g.117745096A>C | NCBI36 |
| NG_033929.1:g.113616T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368507.8:c.6020T>G MANE Select | ENSP00000357493.3:p.Leu2007Arg | |
| ENST00000368507.7:c.6020T>G | ENSP00000357493.3:p.Leu2007Arg | |
| ENST00000368508.7:c.6038T>G | ENSP00000357494.3:p.Leu2013Arg | |
| NM_002944.2:c.6038T>G | NP_002935.2:p.Leu2013Arg | |
| XM_006715548.2:c.6023T>G | XP_006715611.1:p.Leu2008Arg | |
| XM_011536049.1:c.6068T>G | XP_011534351.1:p.Leu2023Arg | |
| XM_011536050.1:c.6065T>G | XP_011534352.1:p.Leu2022Arg | |
| XM_011536051.1:c.6041T>G | XP_011534353.1:p.Leu2014Arg | |
| XM_011536052.1:c.6026T>G | XP_011534354.1:p.Leu2009Arg | |
| XM_011536053.1:c.5894T>G | XP_011534355.1:p.Leu1965Arg | |
| XM_011536054.1:c.6068T>G | XP_011534356.1:p.Leu2023Arg | |
| XM_006715548.4:c.6023T>G | XP_006715611.1:p.Leu2008Arg | |
| XM_011536049.2:c.6068T>G | XP_011534351.1:p.Leu2023Arg | |
| XM_011536050.2:c.6065T>G | XP_011534352.1:p.Leu2022Arg | |
| XM_011536051.2:c.6041T>G | XP_011534353.1:p.Leu2014Arg | |
| XM_011536052.2:c.6026T>G | XP_011534354.1:p.Leu2009Arg | |
| XM_011536053.2:c.5894T>G | XP_011534355.1:p.Leu1965Arg | |
| XM_011536054.2:c.6068T>G | XP_011534356.1:p.Leu2023Arg | |
| XM_017011172.1:c.5999T>G | XP_016866661.1:p.Leu2000Arg | |
| XM_017011173.1:c.5996T>G | XP_016866662.1:p.Leu1999Arg | |
| NM_001378891.1:c.6026T>G | NP_001365820.1:p.Leu2009Arg | |
| NM_001378902.1:c.6020T>G MANE Select | NP_001365831.1:p.Leu2007Arg | |
| NM_002944.3:c.6038T>G | NP_002935.2:p.Leu2013Arg |