COSMIC:
COSM4438943 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29094844 (MID)
Genomes Max Group AF
0.20735749 (AFR)
Exomes Max Group AF
0.29285904 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18161416C>T , CM000679.2:g.18161416C>T | GRCh38 |
| NC_000017.10:g.18064730C>T , CM000679.1:g.18064730C>T | GRCh37 |
| NC_000017.9:g.18005455C>T | NCBI36 |
| NG_011634.1:g.57711C>T | |
| NG_011634.2:g.57711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1750C>T | ||
| ENST00000643693.1:n.1288C>T | ||
| ENST00000644795.1:c.1278C>T | ENSP00000495720.1:p.Asp426= | |
| ENST00000646782.1:n.2220C>T | ||
| ENST00000647165.2:c.9486C>T MANE Select | ENSP00000495481.1:p.Asp3162= | |
| ENST00000651214.1:n.1917C>T | ||
| ENST00000205890.9:c.9486C>T | ENSP00000205890.5:p.Asp3162= | |
| ENST00000418233.7:c.1278C>T | ENSP00000408800.3:p.Asp426= | |
| ENST00000433411.7:n.936C>T | ||
| ENST00000445289.6:n.416C>T | ||
| ENST00000473013.1:n.670C>T | ||
| ENST00000556535.5:c.348C>T | ENSP00000451782.1:p.Asp116= | |
| ENST00000557190.5:n.314C>T | ||
| ENST00000557655.5:c.*166C>T | ENSP00000451925.1:n.*166C>T | |
| ENST00000578472.5:c.348C>T | ENSP00000467989.1:p.Asp116= | |
| ENST00000578575.1:c.49C>T | ||
| ENST00000579848.6:c.201C>T | ENSP00000465910.1:p.Asp67= | |
| ENST00000615845.4:c.9486C>T | ENSP00000481642.1:p.Asp3162= | |
| NM_016239.3:c.9486C>T | NP_057323.3:p.Asp3162= | |
| XM_011523921.1:c.9480C>T | XP_011522223.1:p.Asp3160= | |
| XM_017024714.2:c.9426C>T | XP_016880203.1:p.Asp3142= | |
| XM_017024715.2:c.9489C>T | XP_016880204.1:p.Asp3163= | |
| NM_016239.4:c.9486C>T MANE Select | NP_057323.3:p.Asp3162= |