Revel Score:
ENST00000367615 (MANE Select)
0.944
ENST00000367616
0.944
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00098215 (NFE)
Genomes Max Group AF
0.00071582 (NFE)
Exomes Max Group AF
0.00098925 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179561327C>T , CM000663.2:g.179561327C>T | GRCh38 |
| NC_000001.10:g.179530462C>T , CM000663.1:g.179530462C>T | GRCh37 |
| NC_000001.9:g.177797085C>T | NCBI36 |
| NG_007535.1:g.19623G>A , LRG_887:g.19623G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.413G>A MANE Select | ENSP00000356587.4:p.Arg138Gln | |
| ENST00000367615.8:c.413G>A | ENSP00000356587.4:p.Arg138Gln | |
| ENST00000367616.4:c.413G>A | ENSP00000356588.4:p.Arg138Gln | |
| NM_001297575.1:c.413G>A | NP_001284504.1:p.Arg138Gln | |
| NM_014625.3:c.413G>A , LRG_887t1:c.413G>A | NP_055440.1:p.Arg138Gln | |
| XM_005245483.2:c.275-1566G>A | XP_005245540.1:n.275-1566G>A | |
| XM_006711529.2:c.413G>A | XP_006711592.1:p.Arg138Gln | |
| XM_005245483.3:c.275-1566G>A | XP_005245540.1:n.275-1566G>A | |
| XM_017002298.1:c.379-1566G>A | XP_016857787.1:n.379-1566G>A | |
| XM_017002299.1:c.413G>A | XP_016857788.1:p.Arg138Gln | |
| NM_001297575.2:c.413G>A | NP_001284504.1:p.Arg138Gln | |
| NM_014625.4:c.413G>A MANE Select | NP_055440.1:p.Arg138Gln |