gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00589872 (NFE)
Genomes Max Group AF
0.00852873 (AMR)
Exomes Max Group AF
0.00587642 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107905465A>T , CM000669.2:g.107905465A>T | GRCh38 |
| NC_000007.13:g.107545910A>T , CM000669.1:g.107545910A>T | GRCh37 |
| NC_000007.12:g.107333146A>T | NCBI36 |
| NG_008045.1:g.19325A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.543A>T MANE Select | ENSP00000205402.3:p.Ile181= | |
| ENST00000205402.9:c.543A>T | ENSP00000205402.3:p.Ile181= | |
| ENST00000415325.5:c.*217A>T | ENSP00000402593.1:n.*217A>T | |
| ENST00000417551.5:c.543A>T | ENSP00000390667.1:p.Ile181= | |
| ENST00000437604.6:c.438+407A>T | ENSP00000387542.2:n.438+407A>T | |
| ENST00000440410.5:c.474A>T | ENSP00000417016.1:p.Ile158= | |
| ENST00000451081.5:c.*290A>T | ENSP00000388077.1:n.*290A>T | |
| ENST00000478414.1:n.251A>T | ||
| ENST00000489184.1:n.496A>T | ||
| NM_000108.4:c.543A>T | NP_000099.2:p.Ile181= | |
| NM_001289750.1:c.246A>T | NP_001276679.1:p.Ile82= | |
| NM_001289751.1:c.474A>T | NP_001276680.1:p.Ile158= | |
| NM_001289752.1:c.438+407A>T | NP_001276681.1:n.438+407A>T | |
| NM_000108.5:c.543A>T MANE Select | NP_000099.2:p.Ile181= |