Revel Score:
ENST00000496887
0.840
ENST00000155840 (MANE Select)
0.840
ENST00000335475
0.840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572050G>T , CM000673.2:g.2572050G>T | GRCh38 |
| NC_000011.9:g.2593280G>T , CM000673.1:g.2593280G>T | GRCh37 |
| NC_000011.8:g.2549856G>T | NCBI36 |
| NG_008935.1:g.132060G>T , LRG_287:g.132060G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.460G>T | ENSP00000434560.2:p.Val154Phe | |
| ENST00000646564.2:c.478-11385G>T | ENSP00000495806.2:n.478-11385G>T | |
| ENST00000155840.12:c.721G>T MANE Select | ENSP00000155840.2:p.Val241Phe | |
| ENST00000335475.6:c.340G>T | ENSP00000334497.5:p.Val114Phe | |
| ENST00000646564.1:c.124-11385G>T | ENSP00000495806.1:n.124-11385G>T | |
| ENST00000155840.9:c.721G>T | ENSP00000155840.2:p.Val241Phe | |
| ENST00000335475.5:c.340G>T | ENSP00000334497.5:p.Val114Phe | |
| ENST00000496887.6:c.460G>T | ENSP00000434560.1:p.Val154Phe | |
| NM_000218.2:c.721G>T , LRG_287t1:c.721G>T | NP_000209.2:p.Val241Phe | |
| NM_181798.1:c.340G>T , LRG_287t2:c.340G>T | NP_861463.1:p.Val114Phe | |
| NM_000218.3:c.721G>T MANE Select | NP_000209.2:p.Val241Phe |