COSMIC:
COSM148984 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65365108 (SAS)
Genomes Max Group AF
0.63589717 (SAS)
Exomes Max Group AF
0.65370237 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168932506T>C , CM000664.2:g.168932506T>C | GRCh38 |
| NC_000002.11:g.169789016T>C , CM000664.1:g.169789016T>C | GRCh37 |
| NC_000002.10:g.169497262T>C | NCBI36 |
| NG_007374.1:g.103818A>G | |
| NG_007374.2:g.103891A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647920.1:c.411A>G | ||
| ENST00000649448.1:c.1401A>G | ENSP00000497165.1:p.Ala467= | |
| ENST00000650372.1:c.3084A>G MANE Select | ENSP00000497931.1:p.Ala1028= | |
| ENST00000263817.6:c.3084A>G | ENSP00000263817.6:p.Ala1028= | |
| ENST00000439188.1:c.1773A>G | ENSP00000416058.1:n.1773A>G | |
| NM_003742.2:c.3084A>G | NP_003733.2:p.Ala1028= | |
| XM_006712817.2:c.3126A>G | XP_006712880.1:p.Ala1042= | |
| XM_011512077.1:c.3186A>G | XP_011510379.1:p.Ala1062= | |
| XM_011512078.1:c.3186A>G | XP_011510380.1:p.Ala1062= | |
| XM_011512079.1:c.3186A>G | XP_011510381.1:p.Ala1062= | |
| XM_011512081.1:c.1410A>G | XP_011510383.1:p.Ala470= | |
| NM_003742.4:c.3084A>G MANE Select | NP_003733.2:p.Ala1028= | |
| XM_006712817.3:c.3126A>G | XP_006712880.1:p.Ala1042= | |
| XM_011512077.2:c.3186A>G | XP_011510379.1:p.Ala1062= | |
| XM_011512078.2:c.3186A>G | XP_011510380.1:p.Ala1062= | |
| XM_011512081.2:c.1410A>G | XP_011510383.1:p.Ala470= | |
| XM_017005165.1:c.3186A>G | XP_016860654.1:p.Ala1062= | |
| XM_017005166.1:c.2415A>G | XP_016860655.1:p.Ala805= | |
| XM_017005167.1:c.1869A>G | XP_016860656.1:p.Ala623= |