Revel Score:
ENST00000155840 (MANE Select)
0.875
ENST00000335475
0.875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583464C>A , CM000673.2:g.2583464C>A | GRCh38 |
| NC_000011.9:g.2604694C>A , CM000673.1:g.2604694C>A | GRCh37 |
| NC_000011.8:g.2561270C>A | NCBI36 |
| NG_008935.1:g.143474C>A , LRG_287:g.143474C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.690C>A | ENSP00000434560.2:p.Asp230Glu | |
| ENST00000646564.2:c.507C>A | ENSP00000495806.2:p.Asp169Glu | |
| ENST00000155840.12:c.951C>A MANE Select | ENSP00000155840.2:p.Asp317Glu | |
| ENST00000335475.6:c.570C>A | ENSP00000334497.5:p.Asp190Glu | |
| ENST00000646564.1:c.153C>A | ENSP00000495806.1:p.Asp51Glu | |
| ENST00000155840.9:c.951C>A | ENSP00000155840.2:p.Asp317Glu | |
| ENST00000335475.5:c.570C>A | ENSP00000334497.5:p.Asp190Glu | |
| NM_000218.2:c.951C>A , LRG_287t1:c.951C>A | NP_000209.2:p.Asp317Glu | |
| NM_181798.1:c.570C>A , LRG_287t2:c.570C>A | NP_861463.1:p.Asp190Glu | |
| NM_000218.3:c.951C>A MANE Select | NP_000209.2:p.Asp317Glu |