dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51811279 (AMR)
Genomes Max Group AF
0.51207951 (AMR)
Exomes Max Group AF
0.51837164 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10159690G>A , CM000674.2:g.10159690G>A | GRCh38 |
| NC_000012.11:g.10312289G>A , CM000674.1:g.10312289G>A | GRCh37 |
| NC_000012.10:g.10203556G>A | NCBI36 |
| NG_016743.1:g.17502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309539.8:c.*190C>T MANE Select | ENSP00000309124.3:n.*190C>T | |
| ENST00000309539.7:c.*190C>T | ENSP00000309124.3:n.*190C>T | |
| ENST00000432556.6:c.*326C>T | ENSP00000405116.2:n.*326C>T | |
| ENST00000536989.1:n.547C>T | ||
| ENST00000543993.5:c.*326C>T | ENSP00000445085.1:n.*326C>T | |
| ENST00000544577.5:c.*190C>T | ENSP00000444457.1:n.*190C>T | |
| ENST00000545927.5:c.*326C>T | ENSP00000439251.1:n.*326C>T | |
| NM_001172632.1:c.*326C>T | NP_001166103.1:n.*326C>T | |
| NM_001172633.1:c.*326C>T | NP_001166104.1:n.*326C>T | |
| NM_002543.3:c.*190C>T | NP_002534.1:n.*190C>T | |
| XM_011520682.1:c.*190C>T | XP_011518984.1:n.*190C>T | |
| XM_011520683.1:c.*342C>T | XP_011518985.1:n.*342C>T | |
| NM_002543.4:c.*190C>T MANE Select | NP_002534.1:n.*190C>T | |
| NM_001172632.2:c.*326C>T | NP_001166103.1:n.*326C>T | |
| NM_001172633.2:c.*326C>T | NP_001166104.1:n.*326C>T |