ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Exomes Max Group AF
0.00002004 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154145C>T , CM000681.2:g.55154145C>T | GRCh38 |
| NC_000019.9:g.55665513C>T , CM000681.1:g.55665513C>T | GRCh37 |
| NC_000019.8:g.60357325C>T | NCBI36 |
| NG_007866.2:g.8588G>A , LRG_432:g.8588G>A | |
| NG_011829.2:g.94G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.434G>A MANE Select | ENSP00000341838.5:p.Arg145Gln | |
| ENST00000665070.1:c.467G>A | ENSP00000499482.1:p.Arg156Gln | |
| ENST00000344887.9:c.434G>A | ENSP00000341838.5:p.Arg145Gln | |
| ENST00000585806.5:n.433G>A | ||
| ENST00000586669.5:n.442G>A | ||
| ENST00000588882.1:c.359G>A | ENSP00000466729.1:p.Arg120Gln | |
| ENST00000589864.1:n.262G>A | ||
| NM_000363.4:c.434G>A , LRG_432t1:c.434G>A | NP_000354.4:p.Arg145Gln | |
| NM_000363.5:c.434G>A MANE Select | NP_000354.4:p.Arg145Gln |