Revel Score:
ENST00000503569
0.119
ENST00000226760 (MANE Select)
0.119
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00160004 (AMR)
Genomes Max Group AF
0.0010809 (AMR)
Exomes Max Group AF
0.00165575 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301555G>A , CM000666.2:g.6301555G>A | GRCh38 |
| NC_000004.11:g.6303282G>A , CM000666.1:g.6303282G>A | GRCh37 |
| NC_000004.10:g.6354183G>A | NCBI36 |
| NG_011700.1:g.36706G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1796G>A | ENSP00000507852.1:p.Arg599Gln | |
| ENST00000683395.1:c.1737G>A | ||
| ENST00000684087.1:c.1760G>A | ENSP00000506978.1:p.Arg587Gln | |
| ENST00000506362.2:c.1511G>A | ENSP00000424103.2:p.Arg504Gln | |
| ENST00000673642.1:c.1419G>A | ENSP00000501242.1:n.1419G>A | |
| ENST00000673991.1:c.1796G>A | ENSP00000501033.1:p.Arg599Gln | |
| ENST00000226760.5:c.1760G>A MANE Select | ENSP00000226760.1:p.Arg587Gln | |
| ENST00000503569.5:c.1760G>A | ENSP00000423337.1:p.Arg587Gln | |
| ENST00000507765.1:n.1945G>A | ||
| NM_001145853.1:c.1760G>A | NP_001139325.1:p.Arg587Gln | |
| NM_006005.3:c.1760G>A MANE Select | NP_005996.2:p.Arg587Gln | |
| XM_017008586.1:c.1769G>A | XP_016864075.1:p.Arg590Gln |