Revel Score:
ENST00000357836
0.548
ENST00000336751 (MANE Select)
0.548
ENST00000497365
0.548
ENST00000475797
0.548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146018311T>A , CM000663.2:g.146018311T>A | GRCh38 |
| NC_000001.10:g.145416702A>T , CM000663.1:g.145416702A>T | GRCh37 |
| NC_000001.9:g.144128059A>T | NCBI36 |
| NG_011568.1:g.8512A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336751.11:c.1047A>T MANE Select | ENSP00000337014.5:p.Glu349Asp | |
| ENST00000636675.1:c.369A>T | ENSP00000490072.1:p.Glu123Asp | |
| ENST00000336751.10:c.1047A>T | ENSP00000337014.5:p.Glu349Asp | |
| ENST00000357836.5:c.708A>T | ENSP00000350495.5:p.Glu236Asp | |
| ENST00000475797.1:c.369A>T | ENSP00000425716.1:p.Glu123Asp | |
| ENST00000497365.5:c.369A>T | ENSP00000421820.1:p.Glu123Asp | |
| NM_001316767.1:c.369A>T | NP_001303696.1:p.Glu123Asp | |
| NM_145277.4:c.708A>T | NP_660320.3:p.Glu236Asp | |
| NM_202004.3:c.369A>T | NP_973733.1:p.Glu123Asp | |
| NM_213652.3:c.369A>T | NP_998817.1:p.Glu123Asp | |
| NM_213653.3:c.1047A>T | NP_998818.1:p.Glu349Asp | |
| XM_005272932.1:c.1047A>T | XP_005272989.1:p.Glu349Asp | |
| NM_001316767.2:c.369A>T | NP_001303696.1:p.Glu123Asp | |
| NM_145277.5:c.708A>T | NP_660320.3:p.Glu236Asp | |
| NM_202004.4:c.369A>T | NP_973733.1:p.Glu123Asp | |
| NM_213652.4:c.369A>T | NP_998817.1:p.Glu123Asp | |
| NM_001379352.1:c.1047A>T | NP_001366281.1:p.Glu349Asp | |
| NM_213653.4:c.1047A>T MANE Select | NP_998818.1:p.Glu349Asp |