gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78033613 (AFR)
Genomes Max Group AF
0.77925195 (AFR)
Exomes Max Group AF
0.77566636 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.112882313A>G , CM000675.2:g.112882313A>G | GRCh38 |
| NC_000013.10:g.113536627A>G , CM000675.1:g.113536627A>G | GRCh37 |
| NC_000013.9:g.112584628A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375645.8:c.*447A>G MANE Select | ENSP00000364796.3:n.*447A>G | |
| ENST00000375630.6:c.*249A>G | ENSP00000364781.2:n.*249A>G | |
| ENST00000375645.7:c.*447A>G | ENSP00000364796.3:n.*447A>G | |
| ENST00000419631.1:c.801A>G | ENSP00000410824.1:n.801A>G | |
| ENST00000471555.5:c.1986A>G | ||
| ENST00000487903.5:c.*510A>G | ENSP00000420387.1:n.*510A>G | |
| ENST00000614170.1:n.1342A>G | ||
| NM_015205.2:c.*447A>G | NP_056020.2:n.*447A>G | |
| NM_032189.3:c.*249A>G | NP_115565.3:n.*249A>G | |
| XM_005268299.3:c.*249A>G | XP_005268356.1:n.*249A>G | |
| XM_005268300.3:c.*249A>G | XP_005268357.1:n.*249A>G | |
| XM_005268305.3:c.*510A>G | XP_005268362.1:n.*510A>G | |
| XM_011537478.1:c.*249A>G | XP_011535780.1:n.*249A>G | |
| XM_011537479.1:c.*249A>G | XP_011535781.1:n.*249A>G | |
| XM_011537481.1:c.*249A>G | XP_011535783.1:n.*249A>G | |
| XM_005268299.4:c.*249A>G | XP_005268356.1:n.*249A>G | |
| XM_005268300.4:c.*249A>G | XP_005268357.1:n.*249A>G | |
| XM_005268305.4:c.*510A>G | XP_005268362.1:n.*510A>G | |
| XM_005268306.4:c.*507A>G | XP_005268363.1:n.*507A>G | |
| NM_015205.3:c.*447A>G MANE Select | NP_056020.2:n.*447A>G | |
| NM_032189.4:c.*249A>G | NP_115565.3:n.*249A>G |