COSMIC:
COSN17426815 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40493701 (NFE)
Genomes Max Group AF
0.40493701 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44898409A>G , CM000681.2:g.44898409A>G | GRCh38 |
| NC_000019.9:g.45401666A>G , CM000681.1:g.45401666A>G | GRCh37 |
| NC_000019.8:g.50093506A>G | NCBI36 |
| NG_042854.1:g.12190A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426677.7:c.644-2321A>G MANE Select | ENSP00000410339.1:n.644-2321A>G | |
| ENST00000252487.9:c.644-2321A>G | ENSP00000252487.4:n.644-2321A>G | |
| ENST00000405636.6:c.644-2321A>G | ENSP00000385184.2:n.644-2321A>G | |
| ENST00000426677.6:c.644-2321A>G | ENSP00000410339.1:n.644-2321A>G | |
| ENST00000592041.1:c.160-2321A>G | ||
| ENST00000592434.5:c.644-2321A>G | ENSP00000466084.1:n.644-2321A>G | |
| NM_001128916.1:c.644-2321A>G | NP_001122388.1:n.644-2321A>G | |
| NM_001128917.1:c.644-2321A>G | NP_001122389.1:n.644-2321A>G | |
| NM_006114.2:c.644-2321A>G | NP_006105.1:n.644-2321A>G | |
| XM_005258411.2:c.644-2321A>G | XP_005258468.1:n.644-2321A>G | |
| XM_005258411.4:c.644-2321A>G | XP_005258468.1:n.644-2321A>G | |
| NM_001128917.2:c.644-2321A>G MANE Select | NP_001122389.1:n.644-2321A>G | |
| NM_006114.3:c.644-2321A>G | NP_006105.1:n.644-2321A>G | |
| NM_001128916.2:c.644-2321A>G | NP_001122388.1:n.644-2321A>G |