gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32747535 (SAS)
Genomes Max Group AF
0.31287642 (SAS)
Exomes Max Group AF
0.32762965 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121641283C>T , CM000674.2:g.121641283C>T | GRCh38 |
| NC_000012.11:g.122079189C>T , CM000674.1:g.122079189C>T | GRCh37 |
| NC_000012.10:g.120563572C>T | NCBI36 |
| NG_007500.1:g.19709C>T , LRG_93:g.19709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.668C>T | ||
| ENST00000617316.2:c.546C>T | ENSP00000482568.2:p.Ile182= | |
| ENST00000646827.1:n.744C>T | ||
| ENST00000611718.1:c.*211C>T | ENSP00000477953.1:n.*211C>T | |
| ENST00000616379.1:c.546C>T | ENSP00000480616.1:p.Ile182= | |
| ENST00000617316.1:c.357C>T | ENSP00000482568.1:p.Ile119= | |
| NM_032790.3:c.546C>T , LRG_93t1:c.546C>T | NP_116179.2:p.Ile182= |