ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007509 (SAS)
Exomes Max Group AF
0.00007999 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154095G>A , CM000681.2:g.55154095G>A | GRCh38 |
| NC_000019.9:g.55665463G>A , CM000681.1:g.55665463G>A | GRCh37 |
| NC_000019.8:g.60357275G>A | NCBI36 |
| NG_007866.2:g.8638C>T , LRG_432:g.8638C>T | |
| NG_011829.2:g.144C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.484C>T MANE Select | ENSP00000341838.5:p.Arg162Trp | |
| ENST00000665070.1:c.517C>T | ENSP00000499482.1:p.Arg173Trp | |
| ENST00000344887.9:c.484C>T | ENSP00000341838.5:p.Arg162Trp | |
| ENST00000585806.5:n.483C>T | ||
| ENST00000588882.1:c.409C>T | ENSP00000466729.1:p.Arg137Trp | |
| ENST00000589864.1:n.312C>T | ||
| NM_000363.4:c.484C>T , LRG_432t1:c.484C>T | NP_000354.4:p.Arg162Trp | |
| NM_000363.5:c.484C>T MANE Select | NP_000354.4:p.Arg162Trp |