Revel Score:
ENST00000311895 (MANE Select)
0.760
ENST00000389138
0.760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948247T>C , CM000678.2:g.13948247T>C | GRCh38 |
| NC_000016.9:g.14042104T>C , CM000678.1:g.14042104T>C | GRCh37 |
| NC_000016.8:g.13949605T>C | NCBI36 |
| NG_011442.1:g.33091T>C , LRG_463:g.33091T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2789T>C | ENSP00000507912.1:p.Leu930Pro | |
| ENST00000683962.1:c.*2345T>C | ENSP00000506854.1:n.*2345T>C | |
| ENST00000311895.8:c.2651T>C MANE Select | ENSP00000310520.7:p.Leu884Pro | |
| ENST00000311895.7:c.2651T>C | ENSP00000310520.7:p.Leu884Pro | |
| ENST00000389138.7:n.1928T>C | ||
| NM_005236.2:c.2651T>C , LRG_463t1:c.2651T>C | NP_005227.1:p.Leu884Pro | |
| XM_011522424.1:c.2789T>C | XP_011520726.1:p.Leu930Pro | |
| XM_011522425.1:c.2108T>C | XP_011520727.1:p.Leu703Pro | |
| XM_011522426.1:c.1862T>C | XP_011520728.1:p.Leu621Pro | |
| XM_011522427.1:c.1301T>C | XP_011520729.1:p.Leu434Pro | |
| XR_932805.1:n.2810T>C | ||
| XM_011522424.3:c.2789T>C | XP_011520726.1:p.Leu930Pro | |
| XM_017023043.2:c.1862T>C | XP_016878532.1:p.Leu621Pro | |
| NM_005236.3:c.2651T>C MANE Select | NP_005227.1:p.Leu884Pro |