Revel Score:
ENST00000311907 (MANE Select)
0.820
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46728746C>T , CM000673.2:g.46728746C>T | GRCh38 |
| NC_000011.9:g.46750296C>T , CM000673.1:g.46750296C>T | GRCh37 |
| NC_000011.8:g.46706872C>T | NCBI36 |
| NG_008953.1:g.14554C>T , LRG_551:g.14554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.1381C>T MANE Select | ENSP00000308541.5:p.Arg461Trp | |
| ENST00000311907.9:c.1381C>T | ENSP00000308541.5:p.Arg461Trp | |
| ENST00000530231.5:c.1355+26C>T | ENSP00000433907.1:n.1355+26C>T | |
| NM_000506.3:c.1381C>T | NP_000497.1:p.Arg461Trp | |
| NM_000506.4:c.1381C>T , LRG_551t1:c.1381C>T | NP_000497.1:p.Arg461Trp | |
| NM_001311257.1:c.1333C>T | NP_001298186.1:p.Arg445Trp | |
| XR_428840.2:n.1425C>T | ||
| XR_428840.4:n.1416C>T | ||
| NM_000506.5:c.1381C>T MANE Select | NP_000497.1:p.Arg461Trp | |
| NM_001311257.2:c.1333C>T | NP_001298186.1:p.Arg445Trp |