Revel Score:
ENST00000467793
0.049
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150338437T>A , CM000669.2:g.150338437T>A | GRCh38 |
| NC_000007.13:g.150035526T>A , CM000669.1:g.150035526T>A | GRCh37 |
| NC_000007.12:g.149666459T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223271.8:c.*13A>T MANE Select | ENSP00000223271.3:n.*13A>T | |
| ENST00000223271.7:c.*13A>T | ENSP00000223271.3:n.*13A>T | |
| ENST00000466675.5:c.*13A>T | ENSP00000418009.1:n.*13A>T | |
| ENST00000467793.5:c.378A>T | ENSP00000417669.1:p.Arg126Ser | |
| ENST00000478771.2:n.1787A>T | ||
| NM_002889.3:c.*13A>T | NP_002880.1:n.*13A>T | |
| NM_002889.4:c.*13A>T MANE Select | NP_002880.1:n.*13A>T |