ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00430979 (EAS)
Genomes Max Group AF
0.00533283 (EAS)
Exomes Max Group AF
0.00399374 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156248G>A , CM000681.2:g.55156248G>A | GRCh38 |
| NC_000019.9:g.55667616G>A , CM000681.1:g.55667616G>A | GRCh37 |
| NC_000019.8:g.60359428G>A | NCBI36 |
| NG_007866.2:g.6485C>T , LRG_432:g.6485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.235C>T MANE Select | ENSP00000341838.5:p.Arg79Cys | |
| ENST00000665070.1:c.235C>T | ENSP00000499482.1:p.Arg79Cys | |
| ENST00000344887.9:c.235C>T | ENSP00000341838.5:p.Arg79Cys | |
| ENST00000585806.5:n.234C>T | ||
| ENST00000586669.5:n.243C>T | ||
| ENST00000587176.5:n.419C>T | ||
| ENST00000587871.1:c.854C>T | ||
| ENST00000588882.1:c.160C>T | ENSP00000466729.1:p.Arg54Cys | |
| ENST00000590463.1:n.407C>T | ||
| NM_000363.4:c.235C>T , LRG_432t1:c.235C>T | NP_000354.4:p.Arg79Cys | |
| NM_000363.5:c.235C>T MANE Select | NP_000354.4:p.Arg79Cys |