Linked Data
ClinVar Variation Id:
532518
ClinVar RCV Id:
RCV000639349
dbSNP Id:
rs777442412
ExAC:
11:61205158 G / A
gnomAD v2:
11-61205158-G-A
gnomAD v3:
11-61437686-G-A
gnomAD v4:
11-61437686-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61437686G>A , CM000673.2:g.61437686G>A | GRCh38 |
| NC_000011.9:g.61205158G>A , CM000673.1:g.61205158G>A | GRCh37 |
| NC_000011.8:g.60961734G>A | NCBI36 |
| NG_023393.1:g.12562G>A , LRG_519:g.12562G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301761.7:c.98G>A MANE Select | ENSP00000301761.3:p.Arg33His | |
| ENST00000301761.6:c.98G>A | ENSP00000301761.2:p.Arg33His | |
| ENST00000359614.9:c.98G>A | ENSP00000352630.5:p.Arg33His | |
| ENST00000534878.5:c.98G>A | ENSP00000471030.1:p.Arg33His | |
| ENST00000536250.1:c.*100G>A | ENSP00000471120.1:n.*100G>A | |
| ENST00000536670.5:n.124G>A | ||
| ENST00000537782.5:c.98G>A | ENSP00000469951.1:p.Arg33His | |
| ENST00000538594.5:c.98G>A | ENSP00000440939.1:p.Arg33His | |
| ENST00000541135.5:c.98G>A | ENSP00000443130.1:p.Arg33His | |
| ENST00000542074.1:c.36+7504G>A | ENSP00000469670.1:n.36+7504G>A | |
| ENST00000542794.5:c.*100G>A | ENSP00000439983.1:n.*100G>A | |
| ENST00000543044.2:c.62G>A | ENSP00000440219.1:p.Arg21His | |
| ENST00000543265.1:c.98G>A | ENSP00000443660.1:p.Arg33His | |
| ENST00000544025.5:n.193G>A | ||
| ENST00000544801.5:c.98G>A | ENSP00000442581.1:p.Arg33His | |
| ENST00000544880.1:n.102G>A | ||
| NM_017841.2:c.98G>A , LRG_519t1:c.98G>A | NP_060311.1:p.Arg33His | |
| NM_017841.4:c.98G>A MANE Select | NP_060311.1:p.Arg33His |