Revel Score:
ENST00000311895 (MANE Select)
0.232
ENST00000389138
0.232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948155A>C , CM000678.2:g.13948155A>C | GRCh38 |
| NC_000016.9:g.14042012A>C , CM000678.1:g.14042012A>C | GRCh37 |
| NC_000016.8:g.13949513A>C | NCBI36 |
| NG_011442.1:g.32999A>C , LRG_463:g.32999A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2697A>C | ENSP00000507912.1:p.Leu899Phe | |
| ENST00000683962.1:c.*2253A>C | ENSP00000506854.1:n.*2253A>C | |
| ENST00000311895.8:c.2559A>C MANE Select | ENSP00000310520.7:p.Leu853Phe | |
| ENST00000311895.7:c.2559A>C | ENSP00000310520.7:p.Leu853Phe | |
| ENST00000389138.7:n.1836A>C | ||
| NM_005236.2:c.2559A>C , LRG_463t1:c.2559A>C | NP_005227.1:p.Leu853Phe | |
| XM_011522424.1:c.2697A>C | XP_011520726.1:p.Leu899Phe | |
| XM_011522425.1:c.2016A>C | XP_011520727.1:p.Leu672Phe | |
| XM_011522426.1:c.1770A>C | XP_011520728.1:p.Leu590Phe | |
| XM_011522427.1:c.1209A>C | XP_011520729.1:p.Leu403Phe | |
| XR_932805.1:n.2718A>C | ||
| XM_011522424.3:c.2697A>C | XP_011520726.1:p.Leu899Phe | |
| XM_017023043.2:c.1770A>C | XP_016878532.1:p.Leu590Phe | |
| NM_005236.3:c.2559A>C MANE Select | NP_005227.1:p.Leu853Phe |