Revel Score:
ENST00000359376
0.441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81928578A>C , CM000678.2:g.81928578A>C | GRCh38 |
| NC_000016.9:g.81962183A>C , CM000678.1:g.81962183A>C | GRCh37 |
| NC_000016.8:g.80519684A>C | NCBI36 |
| NG_032019.2:g.194482A>C , LRG_376:g.194482A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570198.2:n.1653A>C | ||
| ENST00000697562.1:c.*1395A>C | ENSP00000513338.1:n.*1395A>C | |
| ENST00000697563.1:c.*2381A>C | ENSP00000513339.1:n.*2381A>C | |
| ENST00000697564.1:c.2418A>C | ENSP00000513340.1:p.Leu806Phe | |
| ENST00000697581.1:c.*2529A>C | ENSP00000513346.1:n.*2529A>C | |
| ENST00000697582.1:c.2535A>C | ENSP00000513347.1:p.Leu845Phe | |
| ENST00000697583.1:c.2334A>C | ENSP00000513349.1:p.Leu778Phe | |
| ENST00000697584.1:c.2334A>C | ENSP00000513350.1:p.Leu778Phe | |
| ENST00000697585.1:c.2334A>C | ENSP00000513351.1:p.Leu778Phe | |
| ENST00000697586.1:c.2334A>C | ENSP00000513352.1:p.Leu778Phe | |
| ENST00000697587.1:c.2334A>C | ENSP00000513353.1:p.Leu778Phe | |
| ENST00000564138.6:c.2535A>C MANE Select | ENSP00000482457.1:p.Leu845Phe | |
| ENST00000359376.7:c.2535A>C | ENSP00000352336.4:p.Leu845Phe | |
| ENST00000564138.5:c.2535A>C | ENSP00000482457.1:p.Leu845Phe | |
| ENST00000570196.1:n.298A>C | ||
| NM_002661.4:c.2535A>C | NP_002652.2:p.Leu845Phe | |
| XM_011523108.1:c.2649A>C | XP_011521410.1:p.Leu883Phe | |
| NM_002661.5:c.2535A>C MANE Select | NP_002652.2:p.Leu845Phe |