ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00186485 (AFR)
Genomes Max Group AF
0.00200627 (AFR)
Exomes Max Group AF
0.00145695 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090003C>T , CM000663.2:g.197090003C>T | GRCh38 |
| NC_000001.10:g.197059133C>T , CM000663.1:g.197059133C>T | GRCh37 |
| NC_000001.9:g.195325756C>T | NCBI36 |
| NG_015867.1:g.61692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3198G>A | ||
| ENST00000367409.9:c.9911G>A MANE Select | ENSP00000356379.4:p.Arg3304Gln | |
| ENST00000680265.1:c.10133G>A | ENSP00000505384.1:p.Arg3378Gln | |
| ENST00000680710.1:c.9887G>A | ENSP00000506676.1:p.Arg3296Gln | |
| ENST00000294732.11:c.5156G>A | ENSP00000294732.7:p.Arg1719Gln | |
| ENST00000367408.5:c.2906G>A | ENSP00000356378.1:p.Arg969Gln | |
| ENST00000367409.8:c.9911G>A | ENSP00000356379.4:p.Arg3304Gln | |
| ENST00000612785.1:c.3869G>A | ENSP00000479244.1:p.Arg1290Gln | |
| NM_001206846.1:c.5156G>A | NP_001193775.1:p.Arg1719Gln | |
| NM_018136.4:c.9911G>A | NP_060606.3:p.Arg3304Gln | |
| NM_018136.5:c.9911G>A MANE Select | NP_060606.3:p.Arg3304Gln | |
| NM_001206846.2:c.5156G>A | NP_001193775.1:p.Arg1719Gln |