gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007257 (EAS)
Genomes Max Group AF
0.0000682 (EAS)
Exomes Max Group AF
0.00004907 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151828950G>A , CM000667.2:g.151828950G>A | GRCh38 |
| NC_000005.9:g.151208511G>A , CM000667.1:g.151208511G>A | GRCh37 |
| NC_000005.8:g.151188704G>A | NCBI36 |
| NG_011764.1:g.100887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1030C>T MANE Select | ENSP00000274576.5:p.Arg344Ter | |
| ENST00000274576.8:c.1030C>T | ENSP00000274576.4:p.Arg344Ter | |
| ENST00000455880.2:c.1030C>T | ENSP00000411593.2:p.Arg344Ter | |
| ENST00000462581.6:c.*788C>T | ENSP00000430595.1:n.*788C>T | |
| NM_000171.3:c.1030C>T | NP_000162.2:p.Arg344Ter | |
| NM_001146040.1:c.1030C>T | NP_001139512.1:p.Arg344Ter | |
| NM_001292000.1:c.781C>T | NP_001278929.1:p.Arg261Ter | |
| NM_000171.4:c.1030C>T MANE Select | NP_000162.2:p.Arg344Ter | |
| NM_001146040.2:c.1030C>T | NP_001139512.1:p.Arg344Ter | |
| NM_001292000.2:c.781C>T | NP_001278929.1:p.Arg261Ter |