gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62571224 (NFE)
Genomes Max Group AF
0.62986558 (NFE)
Exomes Max Group AF
0.62214927 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8617653T>C , CM000673.2:g.8617653T>C | GRCh38 |
| NC_000011.9:g.8639200T>C , CM000673.1:g.8639200T>C | GRCh37 |
| NC_000011.8:g.8595776T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525788.2:c.*343A>G | ENSP00000516161.1:n.*343A>G | |
| ENST00000705689.1:c.*291A>G | ENSP00000516162.1:n.*291A>G | |
| ENST00000705690.1:c.*291A>G | ENSP00000516163.1:n.*291A>G | |
| ENST00000705691.1:n.5321A>G | ||
| ENST00000402157.7:c.4470A>G | ||
| ENST00000646038.2:c.*291A>G MANE Select | ENSP00000495413.1:n.*291A>G | |
| ENST00000646038.1:c.*291A>G | ENSP00000495413.1:n.*291A>G | |
| ENST00000299550.10:c.*291A>G | ENSP00000299550.6:n.*291A>G | |
| ENST00000402157.6:c.*291A>G | ENSP00000384876.2:n.*291A>G | |
| ENST00000481014.6:n.4391A>G | ||
| ENST00000529211.1:n.886A>G | ||
| NM_014818.1:c.*291A>G | NP_055633.1:n.*291A>G | |
| XM_006718397.2:c.*291A>G | XP_006718460.1:n.*291A>G | |
| XM_006718398.2:c.*291A>G | XP_006718461.1:n.*291A>G | |
| XM_011520504.1:c.*291A>G | XP_011518806.1:n.*291A>G | |
| XM_011520505.1:c.*291A>G | XP_011518807.1:n.*291A>G | |
| XM_011520506.1:c.*291A>G | XP_011518808.1:n.*291A>G | |
| XM_011520507.1:c.*291A>G | XP_011518809.1:n.*291A>G | |
| XM_011520508.1:c.*355A>G | XP_011518810.1:n.*355A>G | |
| XM_011520509.1:c.*291A>G | XP_011518811.1:n.*291A>G | |
| XM_011520510.1:c.*291A>G | XP_011518812.1:n.*291A>G | |
| XM_011520511.1:c.*291A>G | XP_011518813.1:n.*291A>G | |
| XM_011520512.1:c.*291A>G | XP_011518814.1:n.*291A>G | |
| XM_011520513.1:c.*291A>G | XP_011518815.1:n.*291A>G | |
| XM_011520514.1:c.*291A>G | XP_011518816.1:n.*291A>G | |
| XM_011520515.1:c.*291A>G | XP_011518817.1:n.*291A>G | |
| XM_011520516.1:c.*291A>G | XP_011518818.1:n.*291A>G | |
| XM_011520517.1:c.*291A>G | XP_011518819.1:n.*291A>G | |
| XM_011520518.1:c.*291A>G | XP_011518820.1:n.*291A>G | |
| XM_011520519.1:c.*291A>G | XP_011518821.1:n.*291A>G | |
| XM_011520520.1:c.*291A>G | XP_011518822.1:n.*291A>G | |
| XM_011520521.1:c.*291A>G | XP_011518823.1:n.*291A>G | |
| XM_011520522.1:c.*291A>G | XP_011518824.1:n.*291A>G | |
| XM_011520523.1:c.*291A>G | XP_011518825.1:n.*291A>G | |
| XM_011520526.1:c.*291A>G | XP_011518828.1:n.*291A>G | |
| XM_011520527.1:c.*291A>G | XP_011518829.1:n.*291A>G | |
| XM_006718398.3:c.*291A>G | XP_006718461.1:n.*291A>G | |
| XM_011520507.3:c.*291A>G | XP_011518809.1:n.*291A>G | |
| XM_011520514.2:c.*291A>G | XP_011518816.1:n.*291A>G | |
| XM_011520517.2:c.*291A>G | XP_011518819.1:n.*291A>G | |
| XM_011520522.2:c.*291A>G | XP_011518824.1:n.*291A>G | |
| XM_011520523.2:c.*291A>G | XP_011518825.1:n.*291A>G | |
| XM_011520526.2:c.*291A>G | XP_011518828.1:n.*291A>G | |
| XM_017018629.1:c.*291A>G | XP_016874118.1:n.*291A>G | |
| XM_017018630.1:c.*291A>G | XP_016874119.1:n.*291A>G | |
| XM_017018631.1:c.*291A>G | XP_016874120.1:n.*291A>G | |
| NM_001388022.1:c.*291A>G MANE Select | NP_001374951.1:n.*291A>G | |
| NM_001388023.1:c.*291A>G | NP_001374952.1:n.*291A>G | |
| NM_001388024.1:c.*291A>G | NP_001374953.1:n.*291A>G | |
| NM_014818.2:c.*291A>G | NP_055633.1:n.*291A>G |