Revel Score:
ENST00000155840 (MANE Select)
0.739
ENST00000335475
0.739
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583450A>G , CM000673.2:g.2583450A>G | GRCh38 |
| NC_000011.9:g.2604680A>G , CM000673.1:g.2604680A>G | GRCh37 |
| NC_000011.8:g.2561256A>G | NCBI36 |
| NG_008935.1:g.143460A>G , LRG_287:g.143460A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.676A>G | ENSP00000434560.2:p.Ile226Val | |
| ENST00000646564.2:c.493A>G | ENSP00000495806.2:p.Ile165Val | |
| ENST00000155840.12:c.937A>G MANE Select | ENSP00000155840.2:p.Ile313Val | |
| ENST00000335475.6:c.556A>G | ENSP00000334497.5:p.Ile186Val | |
| ENST00000646564.1:c.139A>G | ENSP00000495806.1:p.Ile47Val | |
| ENST00000155840.9:c.937A>G | ENSP00000155840.2:p.Ile313Val | |
| ENST00000335475.5:c.556A>G | ENSP00000334497.5:p.Ile186Val | |
| NM_000218.2:c.937A>G , LRG_287t1:c.937A>G | NP_000209.2:p.Ile313Val | |
| NM_181798.1:c.556A>G , LRG_287t2:c.556A>G | NP_861463.1:p.Ile186Val | |
| NM_000218.3:c.937A>G MANE Select | NP_000209.2:p.Ile313Val |