COSMIC:
COSM3756115 (not active)
COSM3756116 (not active)
COSM3756117 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46544193 (EAS)
Genomes Max Group AF
0.48222139 (EAS)
Exomes Max Group AF
0.46152392 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2750479A>G , CM000680.2:g.2750479A>G | GRCh38 |
| NC_000018.9:g.2750477A>G , CM000680.1:g.2750477A>G | GRCh37 |
| NC_000018.8:g.2740477A>G | NCBI36 |
| NG_031972.1:g.99592A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583441.2:n.1823A>G | ||
| ENST00000686763.1:c.942A>G | ENSP00000510263.1:p.Ala314= | |
| ENST00000686864.1:c.899A>G | ||
| ENST00000688342.1:c.4137A>G | ENSP00000508422.1:p.Ala1379= | |
| ENST00000688708.1:n.2793A>G | ||
| ENST00000690757.1:n.1594A>G | ||
| ENST00000693213.1:n.3335A>G | ||
| ENST00000320876.11:c.4137A>G MANE Select | ENSP00000326603.7:p.Ala1379= | |
| ENST00000645355.1:c.50A>G | ||
| ENST00000320876.10:c.4137A>G | ENSP00000326603.6:p.Ala1379= | |
| ENST00000577880.5:c.2550A>G | ENSP00000463049.1:p.Ala850= | |
| ENST00000584897.5:c.1957A>G | ||
| NM_015295.2:c.4137A>G | NP_056110.2:p.Ala1379= | |
| XM_011525642.1:c.4137A>G | XP_011523944.1:p.Ala1379= | |
| XM_011525643.1:c.4137A>G | XP_011523945.1:p.Ala1379= | |
| XM_011525644.1:c.3753A>G | XP_011523946.1:p.Ala1251= | |
| XM_011525645.1:c.3573A>G | XP_011523947.1:p.Ala1191= | |
| XM_011525646.1:c.4137A>G | XP_011523948.1:p.Ala1379= | |
| XR_430039.1:n.4326A>G | ||
| XR_935054.1:n.4326A>G | ||
| XR_935055.1:n.4326A>G | ||
| XM_011525643.2:c.4137A>G | XP_011523945.1:p.Ala1379= | |
| XM_017025684.1:c.3573A>G | XP_016881173.1:p.Ala1191= | |
| XR_001753172.1:n.4326A>G | ||
| XR_001753173.1:n.4326A>G | ||
| XR_001753174.1:n.4326A>G | ||
| XR_001753175.1:n.4326A>G | ||
| XR_001753176.1:n.4326A>G | ||
| XR_001753177.1:n.4326A>G | ||
| XR_001753178.1:n.4246A>G | ||
| XR_001753179.1:n.4246A>G | ||
| XR_935055.2:n.4326A>G | ||
| NM_015295.3:c.4137A>G MANE Select | NP_056110.2:p.Ala1379= |