Revel Score:
ENST00000313766 (MANE Select)
0.831
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005891 (MID)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000469 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.259870C>T , CM000669.2:g.259870C>T | GRCh38 |
| NC_000007.13:g.299836C>T , CM000669.1:g.299836C>T | GRCh37 |
| NG_033970.1:g.69506C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1645C>T MANE Select | ENSP00000322323.5:p.Arg549Trp | |
| ENST00000313766.5:c.1645C>T | ENSP00000322323.5:p.Arg549Trp | |
| ENST00000515795.1:n.1302C>T | ||
| NM_020223.3:c.1645C>T | NP_064608.2:p.Arg549Trp | |
| XR_242097.3:n.1792C>T | ||
| XM_017012450.1:c.1906C>T | XP_016867939.1:p.Arg636Trp | |
| XM_017012451.1:c.1903C>T | XP_016867940.1:p.Arg635Trp | |
| XM_017012455.2:c.943C>T | XP_016867944.1:p.Arg315Trp | |
| NM_020223.4:c.1645C>T MANE Select | NP_064608.2:p.Arg549Trp |