Revel Score:
ENST00000225927 (MANE Select)
0.723
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42541127C>G , CM000679.2:g.42541127C>G | GRCh38 |
| NC_000017.10:g.40693145C>G , CM000679.1:g.40693145C>G | GRCh37 |
| NC_000017.9:g.37946671C>G | NCBI36 |
| NG_011552.1:g.10195C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.942C>G MANE Select | ENSP00000225927.1:p.Phe314Leu | |
| ENST00000225927.6:c.942C>G | ENSP00000225927.1:p.Phe314Leu | |
| ENST00000591587.1:c.360-1901C>G | ENSP00000467836.1:n.360-1901C>G | |
| ENST00000592454.1:c.37C>G | ||
| NM_000263.3:c.942C>G | NP_000254.2:p.Phe314Leu | |
| XM_006721920.2:c.111C>G | XP_006721983.1:p.Phe37Leu | |
| XM_011524840.1:c.23-1901C>G | XP_011523142.1:n.23-1901C>G | |
| XM_017024687.1:c.111C>G | XP_016880176.1:p.Phe37Leu | |
| XM_024450771.1:c.999C>G | XP_024306539.1:p.Phe333Leu | |
| XM_024450772.1:c.23-1901C>G | XP_024306540.1:n.23-1901C>G | |
| NM_000263.4:c.942C>G MANE Select | NP_000254.2:p.Phe314Leu |