Revel Score:
ENST00000260630
0.099
ENST00000407341
0.099
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071007A>T , CM000664.2:g.38071007A>T | GRCh38 |
| NC_000002.11:g.38298150A>T , CM000664.1:g.38298150A>T | GRCh37 |
| NC_000002.10:g.38151654A>T | NCBI36 |
| NG_008386.2:g.10095T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1347T>A | ENSP00000478839.2:p.Asp449Glu | |
| ENST00000610745.5:c.1347T>A MANE Select | ENSP00000478561.1:p.Asp449Glu | |
| ENST00000492443.1:n.725T>A | ||
| ENST00000494864.1:c.234T>A | ENSP00000479876.1:p.Asp78Glu | |
| ENST00000610745.4:c.1347T>A | ENSP00000478561.1:p.Asp449Glu | |
| ENST00000614273.1:c.1347T>A | ENSP00000483678.1:p.Asp449Glu | |
| NM_000104.3:c.1347T>A | NP_000095.2:p.Asp449Glu | |
| NM_000104.4:c.1347T>A MANE Select | NP_000095.2:p.Asp449Glu |