Revel Score:
ENST00000263253 (MANE Select)
0.881
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41169525G>A , CM000684.2:g.41169525G>A | GRCh38 |
| NC_000022.10:g.41565529G>A , CM000684.1:g.41565529G>A | GRCh37 |
| NC_000022.9:g.39895475G>A | NCBI36 |
| NG_009817.1:g.81916G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*2115G>A | ENSP00000515365.1:n.*2115G>A | |
| ENST00000263253.9:c.4195G>A MANE Select | ENSP00000263253.7:p.Asp1399Asn | |
| ENST00000674155.1:c.4117G>A | ENSP00000501078.1:p.Asp1373Asn | |
| ENST00000263253.8:c.4195G>A | ENSP00000263253.7:p.Asp1399Asn | |
| NM_001429.3:c.4195G>A | NP_001420.2:p.Asp1399Asn | |
| XM_006724165.2:c.4117G>A | XP_006724228.1:p.Asp1373Asn | |
| NM_001362843.1:c.4117G>A | NP_001349772.1:p.Asp1373Asn | |
| NM_001429.4:c.4195G>A MANE Select | NP_001420.2:p.Asp1399Asn | |
| NM_001362843.2:c.4117G>A | NP_001349772.1:p.Asp1373Asn |