gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47389716 (AMR)
Genomes Max Group AF
0.4736494 (AMR)
Exomes Max Group AF
0.45256377 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111352386A>G , CM000673.2:g.111352386A>G | GRCh38 |
| NC_000011.9:g.111223111A>G , CM000673.1:g.111223111A>G | GRCh37 |
| NC_000011.8:g.110728321A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393067.8:c.*1875T>C MANE Select | ENSP00000376786.3:n.*1875T>C | |
| ENST00000393067.7:c.*1875T>C | ENSP00000376786.3:n.*1875T>C | |
| NM_006235.2:c.*1875T>C | NP_006226.2:n.*1875T>C | |
| XM_005271593.1:c.*1875T>C | XP_005271650.1:n.*1875T>C | |
| XM_005271594.3:c.*1875T>C | XP_005271651.1:n.*1875T>C | |
| XM_006718859.1:c.*1875T>C | XP_006718922.1:n.*1875T>C | |
| XM_005271593.2:c.*1875T>C | XP_005271650.1:n.*1875T>C | |
| XM_006718860.4:c.*4030T>C | XP_006718923.1:n.*4030T>C | |
| XM_017017932.1:c.*4030T>C | XP_016873421.1:n.*4030T>C | |
| NM_006235.3:c.*1875T>C MANE Select | NP_006226.2:n.*1875T>C |