Revel Score:
ENST00000343932 (MANE Select)
0.287
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010377 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00010549 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74753234G>A , CM000677.2:g.74753234G>A | GRCh38 |
| NC_000015.9:g.75045575G>A , CM000677.1:g.75045575G>A | GRCh37 |
| NC_000015.8:g.72832628G>A | NCBI36 |
| NG_008431.1:g.35693G>A | |
| NG_008431.2:g.35693G>A | |
| NG_061543.1:g.9390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1217G>A MANE Select | ENSP00000342007.4:p.Cys406Tyr | |
| ENST00000343932.4:c.1217G>A | ENSP00000342007.4:p.Cys406Tyr | |
| NM_000761.4:c.1217G>A | NP_000752.2:p.Cys406Tyr | |
| NM_000761.5:c.1217G>A MANE Select | NP_000752.2:p.Cys406Tyr |