Revel Score:
ENST00000155840 (MANE Select)
0.705
ENST00000335475
0.705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2778005A>G , CM000673.2:g.2778005A>G | GRCh38 |
| NC_000011.9:g.2799235A>G , CM000673.1:g.2799235A>G | GRCh37 |
| NC_000011.8:g.2755811A>G | NCBI36 |
| NG_008935.1:g.338015A>G , LRG_287:g.338015A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1405A>G | ENSP00000434560.2:p.Ile469Val | |
| ENST00000646564.2:c.1222A>G | ENSP00000495806.2:p.Ile408Val | |
| ENST00000155840.12:c.1762A>G MANE Select | ENSP00000155840.2:p.Ile588Val | |
| ENST00000335475.6:c.1381A>G | ENSP00000334497.5:p.Ile461Val | |
| ENST00000526095.2:c.166A>G | ENSP00000494939.1:p.Ile56Val | |
| ENST00000646564.1:c.868A>G | ENSP00000495806.1:p.Ile290Val | |
| ENST00000155840.9:c.1762A>G | ENSP00000155840.2:p.Ile588Val | |
| ENST00000335475.5:c.1381A>G | ENSP00000334497.5:p.Ile461Val | |
| ENST00000526095.1:n.269A>G | ||
| NM_000218.2:c.1762A>G , LRG_287t1:c.1762A>G | NP_000209.2:p.Ile588Val | |
| NM_181798.1:c.1381A>G , LRG_287t2:c.1381A>G | NP_861463.1:p.Ile461Val | |
| NM_000218.3:c.1762A>G MANE Select | NP_000209.2:p.Ile588Val |