COSMIC:
COSM5983420 (not active)
COSM5983421 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86077446 (AFR)
Genomes Max Group AF
0.85395818 (AFR)
Exomes Max Group AF
0.86408105 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43111239A>G , CM000672.2:g.43111239A>G | GRCh38 |
| NC_000010.10:g.43606687A>G , CM000672.1:g.43606687A>G | GRCh37 |
| NC_000010.9:g.42926693A>G | NCBI36 |
| NG_007489.1:g.39171A>G , LRG_518:g.39171A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.900A>G | ENSP00000480088.2:p.Ala300= | |
| ENST00000683007.1:n.870A>G | ||
| ENST00000683872.1:n.57A>G | ||
| ENST00000340058.6:c.1296A>G | ENSP00000344798.4:p.Ala432= | |
| ENST00000355710.8:c.1296A>G MANE Select | ENSP00000347942.3:p.Ala432= | |
| ENST00000671844.1:c.658A>G | ENSP00000500541.1:p.Ile220Val | |
| ENST00000672389.1:c.106A>G | ENSP00000500252.1:p.Ile36Val | |
| ENST00000340058.5:c.1296A>G | ENSP00000344798.4:p.Ala432= | |
| ENST00000355710.7:c.1296A>G | ENSP00000347942.3:p.Ala432= | |
| ENST00000498820.5:c.74-860A>G | ENSP00000419080.1:n.74-860A>G | |
| ENST00000615310.4:c.1289+7A>G | ENSP00000480088.1:n.1289+7A>G | |
| NM_020630.4:c.1296A>G , LRG_518t2:c.1296A>G | NP_065681.1:p.Ala432= | |
| NM_020975.4:c.1296A>G , LRG_518t1:c.1296A>G | NP_066124.1:p.Ala432= | |
| XM_011540027.1:c.1296A>G | XP_011538329.1:p.Ala432= | |
| NM_001355216.1:c.534A>G | NP_001342145.1:p.Ala178= | |
| NM_020630.5:c.1296A>G | NP_065681.1:p.Ala432= | |
| NM_020975.5:c.1296A>G | NP_066124.1:p.Ala432= | |
| NM_020975.6:c.1296A>G MANE Select | NP_066124.1:p.Ala432= | |
| NM_020630.6:c.1296A>G | NP_065681.1:p.Ala432= |