Revel Score:
ENST00000311895 (MANE Select)
0.467
ENST00000389138
0.467
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947674G>A , CM000678.2:g.13947674G>A | GRCh38 |
| NC_000016.9:g.14041531G>A , CM000678.1:g.14041531G>A | GRCh37 |
| NC_000016.8:g.13949032G>A | NCBI36 |
| NG_011442.1:g.32518G>A , LRG_463:g.32518G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2216G>A | ENSP00000507912.1:p.Ser739Asn | |
| ENST00000683962.1:c.*1772G>A | ENSP00000506854.1:n.*1772G>A | |
| ENST00000311895.8:c.2078G>A MANE Select | ENSP00000310520.7:p.Ser693Asn | |
| ENST00000311895.7:c.2078G>A | ENSP00000310520.7:p.Ser693Asn | |
| ENST00000389138.7:n.1355G>A | ||
| ENST00000462862.1:c.391G>A | ENSP00000461322.1:n.391G>A | |
| NM_005236.2:c.2078G>A , LRG_463t1:c.2078G>A | NP_005227.1:p.Ser693Asn | |
| XM_011522424.1:c.2216G>A | XP_011520726.1:p.Ser739Asn | |
| XM_011522425.1:c.1535G>A | XP_011520727.1:p.Ser512Asn | |
| XM_011522426.1:c.1289G>A | XP_011520728.1:p.Ser430Asn | |
| XM_011522427.1:c.728G>A | XP_011520729.1:p.Ser243Asn | |
| XR_932805.1:n.2237G>A | ||
| XM_011522424.3:c.2216G>A | XP_011520726.1:p.Ser739Asn | |
| XM_017023043.2:c.1289G>A | XP_016878532.1:p.Ser430Asn | |
| NM_005236.3:c.2078G>A MANE Select | NP_005227.1:p.Ser693Asn |