Revel Score:
ENST00000356231 (MANE Select)
0.845
ENST00000267892
0.845
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000693 (NFE)
Exomes Max Group AF
0.00000736 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42726390G>A , CM000677.2:g.42726390G>A | GRCh38 |
| NC_000015.9:g.43018588G>A , CM000677.1:g.43018588G>A | GRCh37 |
| NC_000015.8:g.40805880G>A | NCBI36 |
| NG_012491.1:g.15830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.3124C>T MANE Select | ENSP00000348564.3:p.Arg1042Trp | |
| ENST00000643434.1:c.*2255C>T | ENSP00000494699.1:n.*2255C>T | |
| ENST00000356231.3:c.3124C>T | ENSP00000348564.3:p.Arg1042Trp | |
| ENST00000562465.5:c.1070C>T | ENSP00000454246.1:n.1070C>T | |
| NM_138477.2:c.3124C>T | NP_612486.2:p.Arg1042Trp | |
| XM_005254176.3:c.3127C>T | XP_005254233.1:p.Arg1043Trp | |
| XM_011521270.1:c.3151C>T | XP_011519572.1:p.Arg1051Trp | |
| XM_011521271.1:c.3148C>T | XP_011519573.1:p.Arg1050Trp | |
| XM_011521272.1:c.3151C>T | XP_011519574.1:p.Arg1051Trp | |
| XM_011521273.1:c.*26C>T | XP_011519575.1:n.*26C>T | |
| XM_011521274.1:c.2116C>T | XP_011519576.1:p.Arg706Trp | |
| XM_011521275.1:c.2368C>T | XP_011519577.1:p.Arg790Trp | |
| NM_138477.4:c.3124C>T MANE Select | NP_612486.2:p.Arg1042Trp | |
| XM_005254176.5:c.3127C>T | XP_005254233.1:p.Arg1043Trp | |
| XM_011521270.2:c.3151C>T | XP_011519572.1:p.Arg1051Trp | |
| XM_011521271.2:c.3148C>T | XP_011519573.1:p.Arg1050Trp | |
| XM_011521274.2:c.2116C>T | XP_011519576.1:p.Arg706Trp | |
| XR_001751104.1:n.3181C>T | ||
| XR_001751105.1:n.3134C>T |