Revel Score:
ENST00000274576 (MANE Select)
0.766
ENST00000455880
0.766
ENST00000545569
0.766
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151829033G>A , CM000667.2:g.151829033G>A | GRCh38 |
| NC_000005.9:g.151208594G>A , CM000667.1:g.151208594G>A | GRCh37 |
| NC_000005.8:g.151188787G>A | NCBI36 |
| NG_011764.1:g.100804C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.947C>T MANE Select | ENSP00000274576.5:p.Ala316Val | |
| ENST00000274576.8:c.947C>T | ENSP00000274576.4:p.Ala316Val | |
| ENST00000455880.2:c.947C>T | ENSP00000411593.2:p.Ala316Val | |
| ENST00000462581.6:c.*705C>T | ENSP00000430595.1:n.*705C>T | |
| NM_000171.3:c.947C>T | NP_000162.2:p.Ala316Val | |
| NM_001146040.1:c.947C>T | NP_001139512.1:p.Ala316Val | |
| NM_001292000.1:c.698C>T | NP_001278929.1:p.Ala233Val | |
| NM_000171.4:c.947C>T MANE Select | NP_000162.2:p.Ala316Val | |
| NM_001146040.2:c.947C>T | NP_001139512.1:p.Ala316Val | |
| NM_001292000.2:c.698C>T | NP_001278929.1:p.Ala233Val |