Revel Score:
ENST00000300900 (MANE Select)
0.359
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015722 (NFE)
Genomes Max Group AF
0.00010173 (NFE)
Exomes Max Group AF
0.00015689 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.60150074C>T , CM000679.2:g.60150074C>T | GRCh38 |
| NC_000017.10:g.58227435C>T , CM000679.1:g.58227435C>T | GRCh37 |
| NC_000017.9:g.55582217C>T | NCBI36 |
| NG_012050.1:g.5134C>T | |
| NG_012050.2:g.5134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300900.9:c.40C>T MANE Select | ENSP00000300900.3:p.Arg14Trp | |
| ENST00000300900.8:c.40C>T | ENSP00000300900.3:p.Arg14Trp | |
| ENST00000585705.5:n.133C>T | ||
| ENST00000586876.1:c.40C>T | ENSP00000467465.1:p.Arg14Trp | |
| ENST00000591725.1:c.-319C>T | ENSP00000466964.1:n.-319C>T | |
| NM_000717.3:c.40C>T | NP_000708.1:p.Arg14Trp | |
| XM_005257639.1:c.40C>T | XP_005257696.1:p.Arg14Trp | |
| NM_000717.4:c.40C>T | NP_000708.1:p.Arg14Trp | |
| NR_137422.1:n.139C>T | ||
| XM_005257639.3:c.40C>T | XP_005257696.1:p.Arg14Trp | |
| XR_001752604.2:n.133C>T | ||
| XR_001752605.2:n.133C>T | ||
| XR_001752606.2:n.133C>T | ||
| XR_001752607.2:n.133C>T | ||
| XR_001752608.2:n.133C>T | ||
| XR_001752609.2:n.133C>T | ||
| XR_001752610.2:n.133C>T | ||
| NM_000717.5:c.40C>T MANE Select | NP_000708.1:p.Arg14Trp | |
| NR_137422.2:n.102C>T |