Revel Score:
ENST00000373083
0.049
ENST00000373086
0.049
ENST00000373089 (MANE Select)
0.106
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41350690G>T , CM000668.2:g.41350690G>T | GRCh38 |
| NC_000006.11:g.41318428G>T , CM000668.1:g.41318428G>T | GRCh37 |
| NC_000006.10:g.41426406G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373089.10:c.657G>T MANE Select | ENSP00000362181.5:p.Trp219Cys | |
| ENST00000373083.8:c.764G>T | ENSP00000362175.4:p.Gly255Val | |
| ENST00000373086.3:c.800G>T | ENSP00000362178.3:p.Gly267Val | |
| ENST00000373089.9:c.657G>T | ENSP00000362181.5:p.Trp219Cys | |
| NM_001199509.1:c.800G>T | NP_001186438.1:p.Gly267Val | |
| NM_001199510.1:c.764G>T | NP_001186439.1:p.Gly255Val | |
| NM_004828.3:c.657G>T | NP_004819.2:p.Trp219Cys | |
| NM_004828.4:c.657G>T MANE Select | NP_004819.2:p.Trp219Cys | |
| NM_001199509.2:c.800G>T | NP_001186438.1:p.Gly267Val | |
| NM_001199510.2:c.764G>T | NP_001186439.1:p.Gly255Val |