gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00156717 (NFE)
Genomes Max Group AF
0.00118265 (NFE)
Exomes Max Group AF
0.00157795 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128364601A>T , CM000667.2:g.128364601A>T | GRCh38 |
| NC_000005.9:g.127700294A>T , CM000667.1:g.127700294A>T | GRCh37 |
| NC_000005.8:g.127728193A>T | NCBI36 |
| NG_008750.1:g.178442T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2427T>A MANE Select | ENSP00000262464.4:p.Ile809= | |
| ENST00000262464.8:c.2427T>A | ENSP00000262464.4:p.Ile809= | |
| ENST00000508053.5:c.2427T>A | ENSP00000424571.1:p.Ile809= | |
| ENST00000508989.5:c.2328T>A | ENSP00000425596.1:p.Ile776= | |
| ENST00000619499.4:c.2424T>A | ENSP00000482132.1:p.Ile808= | |
| NM_001999.3:c.2427T>A | NP_001990.2:p.Ile809= | |
| XM_017009228.2:c.2274T>A | XP_016864717.1:p.Ile758= | |
| NM_001999.4:c.2427T>A MANE Select | NP_001990.2:p.Ile809= |