Revel Score:
ENST00000271588 (MANE Select)
0.688
ENST00000367492
0.688
ENST00000414277
0.688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174521T>G , CM000663.2:g.186174521T>G | GRCh38 |
| NC_000001.10:g.186143653T>G , CM000663.1:g.186143653T>G | GRCh37 |
| NC_000001.9:g.184410276T>G | NCBI36 |
| NG_011841.1:g.444971T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15822T>G MANE Select | ENSP00000271588.4:p.Asp5274Glu | |
| ENST00000271588.8:c.15822T>G | ENSP00000271588.4:p.Asp5274Glu | |
| ENST00000414277.1:c.198T>G | ENSP00000406205.1:p.Asp66Glu | |
| NM_031935.2:c.15822T>G | NP_114141.2:p.Asp5274Glu | |
| XM_011510037.1:c.15537T>G | XP_011508339.1:p.Asp5179Glu | |
| XM_011510038.1:c.15822T>G | XP_011508340.1:p.Asp5274Glu | |
| XM_011510038.3:c.15822T>G | XP_011508340.1:p.Asp5274Glu | |
| XM_017002437.1:c.13845T>G | XP_016857926.1:p.Asp4615Glu | |
| NM_031935.3:c.15822T>G MANE Select | NP_114141.2:p.Asp5274Glu |