Revel Score:
ENST00000260630
0.180
ENST00000407341
0.180
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070858T>A , CM000664.2:g.38070858T>A | GRCh38 |
| NC_000002.11:g.38298001T>A , CM000664.1:g.38298001T>A | GRCh37 |
| NC_000002.10:g.38151505T>A | NCBI36 |
| NG_008386.2:g.10244A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1496A>T | ENSP00000478839.2:p.Glu499Val | |
| ENST00000610745.5:c.1496A>T MANE Select | ENSP00000478561.1:p.Glu499Val | |
| ENST00000494864.1:c.383A>T | ENSP00000479876.1:p.Glu128Val | |
| ENST00000610745.4:c.1496A>T | ENSP00000478561.1:p.Glu499Val | |
| ENST00000614273.1:c.1496A>T | ENSP00000483678.1:p.Glu499Val | |
| NM_000104.3:c.1496A>T | NP_000095.2:p.Glu499Val | |
| NM_000104.4:c.1496A>T MANE Select | NP_000095.2:p.Glu499Val |