Revel Score:
ENST00000496887
0.930
ENST00000155840 (MANE Select)
0.930
ENST00000335475
0.930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572862T>G , CM000673.2:g.2572862T>G | GRCh38 |
| NC_000011.9:g.2594092T>G , CM000673.1:g.2594092T>G | GRCh37 |
| NC_000011.8:g.2550668T>G | NCBI36 |
| NG_008935.1:g.132872T>G , LRG_287:g.132872T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.536T>G | ENSP00000434560.2:p.Leu179Arg | |
| ENST00000646564.2:c.478-10573T>G | ENSP00000495806.2:n.478-10573T>G | |
| ENST00000155840.12:c.797T>G MANE Select | ENSP00000155840.2:p.Leu266Arg | |
| ENST00000335475.6:c.416T>G | ENSP00000334497.5:p.Leu139Arg | |
| ENST00000646564.1:c.124-10573T>G | ENSP00000495806.1:n.124-10573T>G | |
| ENST00000155840.9:c.797T>G | ENSP00000155840.2:p.Leu266Arg | |
| ENST00000335475.5:c.416T>G | ENSP00000334497.5:p.Leu139Arg | |
| ENST00000496887.6:c.536T>G | ENSP00000434560.1:p.Leu179Arg | |
| NM_000218.2:c.797T>G , LRG_287t1:c.797T>G | NP_000209.2:p.Leu266Arg | |
| NM_181798.1:c.416T>G , LRG_287t2:c.416T>G | NP_861463.1:p.Leu139Arg | |
| NM_000218.3:c.797T>G MANE Select | NP_000209.2:p.Leu266Arg |