Revel Score:
ENST00000343932 (MANE Select)
0.891
gnomAD v4:
Joint Max Group AF
0.00000957 (NFE)
Exomes Max Group AF
0.00001016 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749866C>T , CM000677.2:g.74749866C>T | GRCh38 |
| NC_000015.9:g.75042207C>T , CM000677.1:g.75042207C>T | GRCh37 |
| NC_000015.8:g.72829260C>T | NCBI36 |
| NG_008431.1:g.32325C>T | |
| NG_008431.2:g.32325C>T | |
| NG_061543.1:g.6022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.128C>T MANE Select | ENSP00000342007.4:p.Pro43Leu | |
| ENST00000343932.4:c.128C>T | ENSP00000342007.4:p.Pro43Leu | |
| NM_000761.4:c.128C>T | NP_000752.2:p.Pro43Leu | |
| NM_000761.5:c.128C>T MANE Select | NP_000752.2:p.Pro43Leu |