gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48362058 (AMR)
Genomes Max Group AF
0.48362058 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114127695G>A , CM000665.2:g.114127695G>A | GRCh38 |
| NC_000003.11:g.113846542G>A , CM000665.1:g.113846542G>A | GRCh37 |
| NC_000003.10:g.115329232G>A | NCBI36 |
| NG_008842.2:g.76713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698213.1:c.*1528C>T | ENSP00000513607.1:n.*1528C>T | |
| ENST00000383673.5:c.*1021C>T MANE Select | ENSP00000373169.2:n.*1021C>T | |
| XM_017005829.1:c.*1021C>T | XP_016861318.1:n.*1021C>T | |
| NM_000796.6:c.*1021C>T MANE Select | NP_000787.2:n.*1021C>T | |
| NM_033663.6:c.*1021C>T | NP_387512.3:n.*1021C>T |