gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29234409 (EAS)
Genomes Max Group AF
0.29234409 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93583178A>G , CM000674.2:g.93583178A>G | GRCh38 |
| NC_000012.11:g.93976954A>G , CM000674.1:g.93976954A>G | GRCh37 |
| NC_000012.10:g.92501085A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549510.1:c.272A>G | ||
| XM_005269213.3:c.592-2510A>G | XP_005269270.2:n.592-2510A>G | |
| XM_006719673.1:c.592-2510A>G | XP_006719736.1:n.592-2510A>G | |
| XM_006719674.1:c.592-2510A>G | XP_006719737.1:n.592-2510A>G | |
| XM_011538929.1:c.592-2510A>G | XP_011537231.1:n.592-2510A>G | |
| XM_011538930.1:c.592-2510A>G | XP_011537232.1:n.592-2510A>G | |
| XM_011538931.1:c.592-2510A>G | XP_011537233.1:n.592-2510A>G | |
| XM_011538932.1:c.592-2510A>G | XP_011537234.1:n.592-2510A>G | |
| XM_011538933.1:c.592-2510A>G | XP_011537235.1:n.592-2510A>G | |
| XM_011538934.1:c.592-2510A>G | XP_011537236.1:n.592-2510A>G | |
| XM_011538935.1:c.591+8005A>G | XP_011537237.1:n.591+8005A>G | |
| XM_011538936.1:c.*132A>G | XP_011537238.1:n.*132A>G | |
| XR_944810.1:n.1162A>G |