ClinVar Variation:
COSMIC:
COSM446826
COSM446827
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12479256 (NFE)
Genomes Max Group AF
0.11817249 (NFE)
Exomes Max Group AF
0.12507973 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52394972C>A , CM000665.2:g.52394972C>A | GRCh38 |
| NC_000003.11:g.52428988C>A , CM000665.1:g.52428988C>A | GRCh37 |
| NC_000003.10:g.52404028C>A | NCBI36 |
| NG_052911.1:g.83654C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.10881C>A MANE Select | ENSP00000401514.2:p.Val3627= | |
| ENST00000420323.6:c.10881C>A | ENSP00000401514.2:p.Val3627= | |
| ENST00000486752.5:n.11338C>A | ||
| ENST00000487254.1:n.376C>A | ||
| ENST00000488988.5:n.2667C>A | ||
| ENST00000490713.5:c.1581C>A | ENSP00000419071.1:p.Val527= | |
| NM_015512.4:c.10881C>A | NP_056327.4:p.Val3627= | |
| XM_011533577.1:c.10950C>A | XP_011531879.1:p.Val3650= | |
| XM_017006129.1:c.10950C>A | XP_016861618.1:p.Val3650= | |
| XM_017006130.1:c.10881C>A | XP_016861619.1:p.Val3627= | |
| XM_017006131.1:c.10824C>A | XP_016861620.1:p.Val3608= | |
| XR_001740098.1:n.14099C>A | ||
| XR_001740099.1:n.14099C>A | ||
| NM_015512.5:c.10881C>A MANE Select | NP_056327.4:p.Val3627= |