COSMIC:
COSM3755012 (not active)
COSM3755013 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4669139 (EAS)
Genomes Max Group AF
0.47628682 (EAS)
Exomes Max Group AF
0.46399562 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69109674A>G , CM000678.2:g.69109674A>G | GRCh38 |
| NC_000016.9:g.69143577A>G , CM000678.1:g.69143577A>G | GRCh37 |
| NC_000016.8:g.67701078A>G | NCBI36 |
| NG_047056.1:g.9111A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000569188.6:c.279A>G MANE Select | ENSP00000454731.1:p.Ala93= | |
| ENST00000219322.7:c.279A>G | ENSP00000219322.3:p.Ala93= | |
| ENST00000306560.1:c.279A>G | ENSP00000304440.1:p.Ala93= | |
| ENST00000566118.5:c.279A>G | ENSP00000456246.1:p.Ala93= | |
| ENST00000569188.5:c.279A>G | ENSP00000454731.1:p.Ala93= | |
| NM_001199280.1:c.279A>G | NP_001186209.1:p.Ala93= | |
| NM_005329.2:c.279A>G | NP_005320.2:p.Ala93= | |
| NM_138612.2:c.279A>G | NP_619515.1:p.Ala93= | |
| XM_005255921.1:c.279A>G | XP_005255978.1:p.Ala93= | |
| XM_011523061.1:c.279A>G | XP_011521363.1:p.Ala93= | |
| XM_005255921.2:c.279A>G | XP_005255978.1:p.Ala93= | |
| XM_011523061.2:c.279A>G | XP_011521363.1:p.Ala93= | |
| NM_001199280.2:c.279A>G MANE Select | NP_001186209.1:p.Ala93= | |
| NM_138612.3:c.279A>G | NP_619515.1:p.Ala93= | |
| NM_005329.3:c.279A>G | NP_005320.2:p.Ala93= |