Revel Score:
ENST00000155840 (MANE Select)
0.814
ENST00000335475
0.814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585271C>A , CM000673.2:g.2585271C>A | GRCh38 |
| NC_000011.9:g.2606501C>A , CM000673.1:g.2606501C>A | GRCh37 |
| NC_000011.8:g.2563077C>A | NCBI36 |
| NG_008935.1:g.145281C>A , LRG_287:g.145281C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1726C>A | ENSP00000434560.2:n.771+1726C>A | |
| ENST00000646564.2:c.588+1726C>A | ENSP00000495806.2:n.588+1726C>A | |
| ENST00000155840.12:c.1092C>A MANE Select | ENSP00000155840.2:p.Phe364Leu | |
| ENST00000335475.6:c.711C>A | ENSP00000334497.5:p.Phe237Leu | |
| ENST00000646564.1:c.234+1726C>A | ENSP00000495806.1:n.234+1726C>A | |
| ENST00000155840.9:c.1092C>A | ENSP00000155840.2:p.Phe364Leu | |
| ENST00000335475.5:c.711C>A | ENSP00000334497.5:p.Phe237Leu | |
| NM_000218.2:c.1092C>A , LRG_287t1:c.1092C>A | NP_000209.2:p.Phe364Leu | |
| NM_181798.1:c.711C>A , LRG_287t2:c.711C>A | NP_861463.1:p.Phe237Leu | |
| NM_000218.3:c.1092C>A MANE Select | NP_000209.2:p.Phe364Leu |