Revel Score:
ENST00000311895 (MANE Select)
0.278
ENST00000389138
0.278
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948224A>C , CM000678.2:g.13948224A>C | GRCh38 |
| NC_000016.9:g.14042081A>C , CM000678.1:g.14042081A>C | GRCh37 |
| NC_000016.8:g.13949582A>C | NCBI36 |
| NG_011442.1:g.33068A>C , LRG_463:g.33068A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2766A>C | ENSP00000507912.1:p.Leu922Phe | |
| ENST00000683962.1:c.*2322A>C | ENSP00000506854.1:n.*2322A>C | |
| ENST00000311895.8:c.2628A>C MANE Select | ENSP00000310520.7:p.Leu876Phe | |
| ENST00000311895.7:c.2628A>C | ENSP00000310520.7:p.Leu876Phe | |
| ENST00000389138.7:n.1905A>C | ||
| NM_005236.2:c.2628A>C , LRG_463t1:c.2628A>C | NP_005227.1:p.Leu876Phe | |
| XM_011522424.1:c.2766A>C | XP_011520726.1:p.Leu922Phe | |
| XM_011522425.1:c.2085A>C | XP_011520727.1:p.Leu695Phe | |
| XM_011522426.1:c.1839A>C | XP_011520728.1:p.Leu613Phe | |
| XM_011522427.1:c.1278A>C | XP_011520729.1:p.Leu426Phe | |
| XR_932805.1:n.2787A>C | ||
| XM_011522424.3:c.2766A>C | XP_011520726.1:p.Leu922Phe | |
| XM_017023043.2:c.1839A>C | XP_016878532.1:p.Leu613Phe | |
| NM_005236.3:c.2628A>C MANE Select | NP_005227.1:p.Leu876Phe |