ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM4972353
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60849956G>A , CM000673.2:g.60849956G>A | GRCh38 |
| NC_000011.9:g.60617429G>A , CM000673.1:g.60617429G>A | GRCh37 |
| NC_000011.8:g.60374005G>A | NCBI36 |
| NG_016170.1:g.11016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227520.10:c.905G>A MANE Select | ENSP00000227520.5:p.Arg302Gln | |
| ENST00000649393.1:n.1638G>A | ||
| ENST00000227520.9:c.905G>A | ENSP00000227520.5:p.Arg302Gln | |
| ENST00000535217.1:c.589G>A | ||
| ENST00000545580.1:c.137G>A | ENSP00000440906.1:p.Arg46Gln | |
| NM_024098.3:c.905G>A | NP_077003.1:p.Arg302Gln | |
| NM_024098.4:c.905G>A MANE Select | NP_077003.1:p.Arg302Gln |