gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013938 (AMR)
Genomes Max Group AF
0.00002338 (AMR)
Exomes Max Group AF
0.0003434 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720446C>T , CM000684.2:g.50720446C>T | GRCh38 |
| NC_000022.10:g.51158874C>T , CM000684.1:g.51158874C>T | GRCh37 |
| NC_000022.9:g.49505740C>T | NCBI36 |
| NG_008607.2:g.51092C>T | |
| NG_070230.1:g.56230C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2214C>T | ENSP00000489147.2:p.Tyr738= | |
| ENST00000414786.7:n.2798C>T | ||
| ENST00000445220.7:c.1266C>T | ENSP00000489407.2:p.Tyr422= | |
| ENST00000664402.2:c.756C>T | ENSP00000499475.1:p.Tyr252= | |
| ENST00000673971.2:c.*1212C>T | ENSP00000501192.1:n.*1212C>T | |
| ENST00000445220.6:c.1266C>T | ENSP00000489407.2:p.Tyr422= | |
| ENST00000262795.6:c.2214C>T | ENSP00000489147.2:p.Tyr738= | |
| ENST00000664402.1:c.756C>T | ENSP00000499475.1:p.Tyr252= | |
| ENST00000673971.1:c.*1212C>T | ENSP00000501192.1:n.*1212C>T | |
| ENST00000262795.5:c.2610C>T | ENSP00000489147.1:p.Tyr870= | |
| ENST00000414786.6:n.2798C>T | ||
| ENST00000445220.5:c.2592C>T | ENSP00000489407.1:p.Tyr864= |