Revel Score:
ENST00000311895 (MANE Select)
0.324
ENST00000389138
0.324
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948246C>T , CM000678.2:g.13948246C>T | GRCh38 |
| NC_000016.9:g.14042103C>T , CM000678.1:g.14042103C>T | GRCh37 |
| NC_000016.8:g.13949604C>T | NCBI36 |
| NG_011442.1:g.33090C>T , LRG_463:g.33090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2788C>T | ENSP00000507912.1:p.Leu930Phe | |
| ENST00000683962.1:c.*2344C>T | ENSP00000506854.1:n.*2344C>T | |
| ENST00000311895.8:c.2650C>T MANE Select | ENSP00000310520.7:p.Leu884Phe | |
| ENST00000311895.7:c.2650C>T | ENSP00000310520.7:p.Leu884Phe | |
| ENST00000389138.7:n.1927C>T | ||
| NM_005236.2:c.2650C>T , LRG_463t1:c.2650C>T | NP_005227.1:p.Leu884Phe | |
| XM_011522424.1:c.2788C>T | XP_011520726.1:p.Leu930Phe | |
| XM_011522425.1:c.2107C>T | XP_011520727.1:p.Leu703Phe | |
| XM_011522426.1:c.1861C>T | XP_011520728.1:p.Leu621Phe | |
| XM_011522427.1:c.1300C>T | XP_011520729.1:p.Leu434Phe | |
| XR_932805.1:n.2809C>T | ||
| XM_011522424.3:c.2788C>T | XP_011520726.1:p.Leu930Phe | |
| XM_017023043.2:c.1861C>T | XP_016878532.1:p.Leu621Phe | |
| NM_005236.3:c.2650C>T MANE Select | NP_005227.1:p.Leu884Phe |