gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033587 (NFE)
Genomes Max Group AF
0.00018201 (NFE)
Exomes Max Group AF
0.0003402 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342061G>T , CM000673.2:g.47342061G>T | GRCh38 |
| NC_000011.9:g.47363612G>T , CM000673.1:g.47363612G>T | GRCh37 |
| NC_000011.8:g.47320188G>T | NCBI36 |
| NG_007667.1:g.15642C>A , LRG_386:g.15642C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1720C>A MANE Select | ENSP00000442795.1:p.Arg574= | |
| ENST00000256993.8:c.1720C>A | ENSP00000256993.5:p.Arg574= | |
| ENST00000399249.6:c.1720C>A | ENSP00000382193.2:p.Arg574= | |
| ENST00000544791.1:c.1720C>A | ENSP00000444259.1:p.Arg574= | |
| ENST00000545968.5:c.1720C>A | ENSP00000442795.1:p.Arg574= | |
| NM_000256.3:c.1720C>A , LRG_386t1:c.1720C>A MANE Select | NP_000247.2:p.Arg574= | |
| XM_011520117.1:c.1702C>A | XP_011518419.1:p.Arg568= | |
| XM_011520118.1:c.1720C>A | XP_011518420.1:p.Arg574= |