Revel Score:
ENST00000282588 (MANE Select)
0.747
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.52861540T>G , CM000667.2:g.52861540T>G | GRCh38 |
| NC_000005.9:g.52157374T>G , CM000667.1:g.52157374T>G | GRCh37 |
| NC_000005.8:g.52193131T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282588.7:c.276T>G MANE Select | ENSP00000282588.5:p.Cys92Trp | |
| ENST00000650673.1:c.276T>G | ENSP00000498529.1:p.Cys92Trp | |
| ENST00000282588.6:c.276T>G | ENSP00000282588.5:p.Cys92Trp | |
| NM_181501.1:c.276T>G | NP_852478.1:p.Cys92Trp | |
| NM_181501.2:c.276T>G MANE Select | NP_852478.1:p.Cys92Trp |