Revel Score:
ENST00000485317
0.985
ENST00000440270
0.985
ENST00000316361 (MANE Select)
0.985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110603794A>C , CM000663.2:g.110603794A>C | GRCh38 |
| NC_000001.10:g.111146416A>C , CM000663.1:g.111146416A>C | GRCh37 |
| NC_000001.9:g.110947939A>C | NCBI36 |
| NG_027997.2:g.32681T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316361.10:c.989T>G MANE Select | ENSP00000314520.4:p.Leu330Arg | |
| ENST00000485317.6:c.989T>G | ENSP00000433109.1:p.Leu330Arg | |
| ENST00000525120.2:n.361+1597T>G | ||
| ENST00000638477.2:c.128+99T>G | ENSP00000491354.1:n.128+99T>G | |
| ENST00000638532.1:c.989T>G | ENSP00000491613.1:p.Leu330Arg | |
| ENST00000638616.2:c.989T>G | ENSP00000491977.1:p.Leu330Arg | |
| ENST00000639048.2:c.227T>G | ENSP00000491627.1:p.Leu76Arg | |
| ENST00000639227.1:n.658+99T>G | ||
| ENST00000639233.2:c.407T>G | ENSP00000492716.1:p.Leu136Arg | |
| ENST00000640450.1:n.998+99T>G | ||
| ENST00000640680.1:n.459+1597T>G | ||
| ENST00000640774.2:c.132+95T>G | ENSP00000492008.1:n.132+95T>G | |
| ENST00000640956.1:c.623T>G | ENSP00000491647.1:p.Leu208Arg | |
| ENST00000675391.1:c.989T>G | ENSP00000502642.1:p.Leu330Arg | |
| ENST00000316361.8:c.989T>G | ENSP00000314520.4:p.Leu330Arg | |
| ENST00000369770.7:c.894+95T>G | ENSP00000358785.3:n.894+95T>G | |
| ENST00000485317.5:c.989T>G | ENSP00000433109.1:p.Leu330Arg | |
| ENST00000633222.1:c.989T>G | ENSP00000487785.1:p.Leu330Arg | |
| NM_001204269.1:c.894+95T>G | NP_001191198.1:n.894+95T>G | |
| NM_004974.3:c.989T>G | NP_004965.1:p.Leu330Arg | |
| XM_011541396.1:c.989T>G | XP_011539698.1:p.Leu330Arg | |
| XM_011541397.1:c.989T>G | XP_011539699.1:p.Leu330Arg | |
| XM_011541398.1:c.989T>G | XP_011539700.1:p.Leu330Arg | |
| XM_011541399.1:c.989T>G | XP_011539701.1:p.Leu330Arg | |
| XM_011541400.1:c.989T>G | XP_011539702.1:p.Leu330Arg | |
| XM_011541396.2:c.989T>G | XP_011539698.1:p.Leu330Arg | |
| XM_011541397.2:c.989T>G | XP_011539699.1:p.Leu330Arg | |
| XM_011541398.2:c.989T>G | XP_011539700.1:p.Leu330Arg | |
| XM_011541399.2:c.989T>G | XP_011539701.1:p.Leu330Arg | |
| XM_011541400.2:c.989T>G | XP_011539702.1:p.Leu330Arg | |
| XM_017001213.1:c.989T>G | XP_016856702.1:p.Leu330Arg | |
| NM_004974.4:c.989T>G MANE Select | NP_004965.1:p.Leu330Arg | |
| NM_001204269.2:c.894+95T>G | NP_001191198.1:n.894+95T>G |