gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58957064 (SAS)
Genomes Max Group AF
0.58961019 (SAS)
Exomes Max Group AF
0.32553537 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.205797619A>G , CM000664.2:g.205797619A>G | GRCh38 |
| NC_000002.11:g.206662343A>G , CM000664.1:g.206662343A>G | GRCh37 |
| NC_000002.10:g.206370588A>G | NCBI36 |
| NG_029567.1:g.120120A>G | |
| NG_029567.2:g.120120A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357785.10:c.*2561A>G MANE Select | ENSP00000350432.5:n.*2561A>G | |
| ENST00000360409.7:c.*2561A>G | ENSP00000353582.3:n.*2561A>G | |
| NM_003872.2:c.*2561A>G | NP_003863.2:n.*2561A>G | |
| NM_201266.1:c.*2561A>G | NP_957718.1:n.*2561A>G | |
| NM_201279.1:c.*2561A>G | NP_958436.1:n.*2561A>G | |
| XM_005246933.2:c.*2561A>G | XP_005246990.2:n.*2561A>G | |
| XM_005246934.2:c.*2561A>G | XP_005246991.2:n.*2561A>G | |
| XR_923055.1:n.5921A>G | ||
| XR_923055.3:n.5127A>G | ||
| NM_003872.3:c.*2561A>G MANE Select | NP_003863.2:n.*2561A>G | |
| NM_201266.2:c.*2561A>G | NP_957718.1:n.*2561A>G | |
| NM_201279.2:c.*2561A>G | NP_958436.1:n.*2561A>G |