Revel Score:
ENST00000489711 (MANE Select)
0.053
ENST00000542599
0.053
ENST00000295605
0.053
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71296208 (EAS)
Genomes Max Group AF
0.67420433 (EAS)
Exomes Max Group AF
0.71597668 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121929321G>A , CM000665.2:g.121929321G>A | GRCh38 |
| NC_000003.11:g.121648168G>A , CM000665.1:g.121648168G>A | GRCh37 |
| NC_000003.10:g.123130858G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489711.6:c.1526G>A MANE Select | ENSP00000417085.1:p.Arg509Lys | |
| ENST00000295605.6:c.1433G>A | ENSP00000295605.2:p.Arg478Lys | |
| ENST00000465060.1:n.449G>A | ||
| ENST00000489711.5:c.1526G>A | ENSP00000417085.1:p.Arg509Lys | |
| NM_001145998.1:c.1433G>A | NP_001139470.1:p.Arg478Lys | |
| NM_021082.3:c.1526G>A | NP_066568.3:p.Arg509Lys | |
| XM_005247722.2:c.1526G>A | XP_005247779.1:p.Arg509Lys | |
| XM_006713736.2:c.1526G>A | XP_006713799.1:p.Arg509Lys | |
| XM_005247722.3:c.1526G>A | XP_005247779.1:p.Arg509Lys | |
| XM_006713736.3:c.1526G>A | XP_006713799.1:p.Arg509Lys | |
| NM_021082.4:c.1526G>A MANE Select | NP_066568.3:p.Arg509Lys | |
| NM_001145998.2:c.1433G>A | NP_001139470.1:p.Arg478Lys |