gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113160151G>T , CM000675.2:g.113160151G>T | GRCh38 |
| NC_000013.10:g.113814465G>T , CM000675.1:g.113814465G>T | GRCh37 |
| NC_000013.9:g.112862466G>T | NCBI36 |
| NG_031993.1:g.6498G>T | |
| NG_031993.2:g.6498G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342783.5:c.274G>T | ENSP00000344458.4:p.Glu92Ter | |
| ENST00000375547.7:c.208G>T MANE Select | ENSP00000364697.2:p.Glu70Ter | |
| ENST00000342783.4:c.274G>T | ENSP00000344458.4:p.Glu92Ter | |
| ENST00000375547.6:c.208G>T | ENSP00000364697.2:p.Glu70Ter | |
| NM_001256134.1:c.274G>T | NP_001243063.1:p.Glu92Ter | |
| NM_003891.2:c.208G>T | NP_003882.1:p.Glu70Ter | |
| XM_011537525.1:c.418G>T | XP_011535827.1:p.Glu140Ter | |
| XM_017020812.1:c.409G>T | XP_016876301.1:p.Glu137Ter | |
| XM_017020813.1:c.274G>T | XP_016876302.1:p.Glu92Ter | |
| XR_001749707.1:n.395G>T | ||
| XR_001749708.1:n.395G>T | ||
| XR_001749709.1:n.395G>T | ||
| NM_003891.3:c.208G>T MANE Select | NP_003882.1:p.Glu70Ter | |
| NM_001256134.2:c.274G>T | NP_001243063.1:p.Glu92Ter |