Linked Data
ClinVar Variation Id:
463831
dbSNP Id:
rs768048172
ExAC:
11:61213539 G / A
gnomAD v2:
11-61213539-G-A
gnomAD v4:
11-61446067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446067G>A , CM000673.2:g.61446067G>A | GRCh38 |
| NC_000011.9:g.61213539G>A , CM000673.1:g.61213539G>A | GRCh37 |
| NC_000011.8:g.60970115G>A | NCBI36 |
| NG_023393.1:g.20943G>A , LRG_519:g.20943G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.497G>A MANE Select | ENSP00000301761.3:p.Arg166His | |
| ENST00000301761.6:c.497G>A | ENSP00000301761.2:p.Arg166His | |
| ENST00000536670.5:n.396+7954G>A | ||
| ENST00000538594.5:c.370+7954G>A | ENSP00000440939.1:n.370+7954G>A | |
| ENST00000541135.5:c.377+7947G>A | ENSP00000443130.1:n.377+7947G>A | |
| ENST00000542074.1:c.*76G>A | ENSP00000469670.1:n.*76G>A | |
| ENST00000542794.5:c.*499G>A | ENSP00000439983.1:n.*499G>A | |
| ENST00000543044.2:c.461G>A | ENSP00000440219.1:p.Arg154His | |
| ENST00000543265.1:c.*120G>A | ENSP00000443660.1:n.*120G>A | |
| ENST00000544025.5:n.465+7954G>A | ||
| ENST00000544801.5:c.370+7954G>A | ENSP00000442581.1:n.370+7954G>A | |
| ENST00000544880.1:n.374+7954G>A | ||
| NM_017841.2:c.497G>A , LRG_519t1:c.497G>A | NP_060311.1:p.Arg166His | |
| NM_017841.4:c.497G>A MANE Select | NP_060311.1:p.Arg166His |