gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001147 (NFE)
Exomes Max Group AF
0.00001179 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115705285G>A , CM000663.2:g.115705285G>A | GRCh38 |
| NC_000001.10:g.116247906G>A , CM000663.1:g.116247906G>A | GRCh37 |
| NC_000001.9:g.116049429G>A | NCBI36 |
| NG_008802.1:g.68521C>T , LRG_404:g.68521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*218C>T | ENSP00000518226.1:n.*218C>T | |
| ENST00000261448.6:c.846C>T MANE Select | ENSP00000261448.5:p.Tyr282= | |
| ENST00000261448.5:c.846C>T | ENSP00000261448.5:p.Tyr282= | |
| NM_001232.3:c.846C>T , LRG_404t1:c.846C>T | NP_001223.2:p.Tyr282= | |
| NM_001232.4:c.846C>T MANE Select | NP_001223.2:p.Tyr282= |