gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02403339 (EAS)
Genomes Max Group AF
0.03770472 (EAS)
Exomes Max Group AF
0.02084304 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130876170A>G , CM000674.2:g.130876170A>G | GRCh38 |
| NC_000012.11:g.131360715A>G , CM000674.1:g.131360715A>G | GRCh37 |
| NC_000012.10:g.129926668A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543796.6:c.*244A>G MANE Select | ENSP00000446215.1:n.*244A>G | |
| ENST00000392369.6:c.*244A>G | ENSP00000376176.2:n.*244A>G | |
| ENST00000448750.7:c.949A>G | ENSP00000396127.3:n.949A>G | |
| ENST00000541630.5:c.*244A>G | ENSP00000441210.1:n.*244A>G | |
| ENST00000541679.7:c.*291A>G | ENSP00000483687.1:n.*291A>G | |
| ENST00000543796.5:c.*244A>G | ENSP00000446215.1:n.*244A>G | |
| NM_001300796.1:c.*244A>G | NP_001287725.1:n.*244A>G | |
| NM_001300797.1:c.*244A>G | NP_001287726.1:n.*244A>G | |
| NM_006325.4:c.*244A>G | NP_006316.1:n.*244A>G | |
| XM_017019772.1:c.*325A>G | XP_016875261.1:n.*325A>G | |
| XM_017019773.1:c.*325A>G | XP_016875262.1:n.*325A>G | |
| NM_006325.5:c.*244A>G MANE Select | NP_006316.1:n.*244A>G | |
| NM_001300796.2:c.*244A>G | NP_001287725.1:n.*244A>G | |
| NM_001300797.2:c.*244A>G | NP_001287726.1:n.*244A>G |