gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00265203 (NFE)
Genomes Max Group AF
0.00266294 (AMR)
Exomes Max Group AF
0.00265067 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.86674435C>T , CM000677.2:g.86674435C>T | GRCh38 |
| NC_000015.9:g.87217666C>T , CM000677.1:g.87217666C>T | GRCh37 |
| NC_000015.8:g.85018670C>T | NCBI36 |
| NG_033836.1:g.537425C>T | |
| NG_033836.2:g.599628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441037.7:c.3220C>T | ENSP00000413001.3:p.Arg1074Ter | |
| ENST00000614907.3:c.3157C>T MANE Select | ENSP00000490608.2:p.Arg1053Trp | |
| ENST00000681381.1:n.316C>T | ||
| ENST00000421325.3:c.3082C>T | ENSP00000397173.3:p.Arg1028Trp | |
| ENST00000441037.6:c.3082C>T | ENSP00000413001.2:p.Arg1028Ter | |
| NM_152336.2:c.3082C>T | NP_689549.2:p.Arg1028Ter | |
| XM_011521226.1:c.3157C>T | XP_011519528.1:p.Arg1053Trp | |
| XM_011521227.1:c.3157C>T | XP_011519529.1:p.Arg1053Ter | |
| NM_152336.3:c.3220C>T | NP_689549.3:p.Arg1074Ter | |
| XM_011521226.3:c.3157C>T | XP_011519528.1:p.Arg1053Trp | |
| XM_011521227.3:c.3157C>T | XP_011519529.1:p.Arg1053Ter | |
| XM_017021918.2:c.3124C>T | XP_016877407.1:p.Arg1042Trp | |
| XM_017021919.2:c.3073C>T | XP_016877408.1:p.Arg1025Trp | |
| NM_152336.4:c.3220C>T | NP_689549.3:p.Arg1074Ter | |
| NM_001386094.1:c.3157C>T MANE Select | NP_001373023.1:p.Arg1053Trp |