Linked Data
ClinVar Variation Id:
460557
ClinVar RCV Id:
RCV000579689
RCV001584257
RCV002268143
RCV002319530
RCV002231713
RCV000764162
RCV003999046
dbSNP Id:
rs759288477
ExAC:
18:48581262 G / A
gnomAD v2:
18-48581262-G-A
gnomAD v3:
18-51054892-G-A
gnomAD v4:
18-51054892-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51054892G>A , CM000680.2:g.51054892G>A | GRCh38 |
| NC_000018.9:g.48581262G>A , CM000680.1:g.48581262G>A | GRCh37 |
| NC_000018.8:g.46835260G>A | NCBI36 |
| NG_013013.2:g.91853G>A , LRG_318:g.91853G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.566G>A | ENSP00000465878.2:p.Arg189His | |
| ENST00000589076.6:c.566G>A | ENSP00000466934.2:p.Arg189His | |
| ENST00000589941.2:c.566G>A | ENSP00000465874.2:p.Arg189His | |
| ENST00000590061.2:c.566G>A | ENSP00000464772.2:p.Arg189His | |
| ENST00000593223.2:c.566G>A | ENSP00000466118.2:p.Arg189His | |
| ENST00000611848.2:c.566G>A | ENSP00000478613.2:p.Arg189His | |
| ENST00000684953.1:n.1938G>A | ||
| ENST00000688307.1:n.54G>A | ||
| ENST00000342988.8:c.566G>A MANE Select | ENSP00000341551.3:p.Arg189His | |
| ENST00000342988.7:c.566G>A | ENSP00000341551.3:p.Arg189His | |
| ENST00000398417.6:c.566G>A | ENSP00000381452.1:p.Arg189His | |
| ENST00000585448.1:n.435G>A | ||
| ENST00000588745.5:c.566G>A | ENSP00000464901.1:p.Arg189His | |
| ENST00000590722.2:c.*742G>A | ENSP00000465737.1:n.*742G>A | |
| ENST00000591126.5:n.2567G>A | ||
| ENST00000592186.5:c.566G>A | ENSP00000468611.1:p.Arg189His | |
| ENST00000592911.5:n.344G>A | ||
| NM_005359.5:c.566G>A , LRG_318t1:c.566G>A | NP_005350.1:p.Arg189His | |
| NM_005359.6:c.566G>A MANE Select | NP_005350.1:p.Arg189His |