Linked Data
ClinVar Variation Id:
41176
dbSNP Id:
rs267606550
ExAC:
11:67256841 G / A
gnomAD v2:
11-67256841-G-A
gnomAD v3:
11-67489370-G-A
gnomAD v4:
11-67489370-G-A
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67489370G>A , CM000673.2:g.67489370G>A | GRCh38 |
| NC_000011.9:g.67256841G>A , CM000673.1:g.67256841G>A | GRCh37 |
| NC_000011.8:g.67013417G>A | NCBI36 |
| NG_008969.1:g.11337G>A , LRG_460:g.11337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.360G>A | ||
| ENST00000528641.7:c.280-668G>A | ENSP00000434982.3:n.280-668G>A | |
| ENST00000529797.2:n.313G>A | ||
| ENST00000682324.1:c.383G>A | ENSP00000508017.1:p.Arg128His | |
| ENST00000682659.1:c.100-668G>A | ENSP00000507351.1:n.100-668G>A | |
| ENST00000682699.1:c.383G>A | ENSP00000507935.1:p.Arg128His | |
| ENST00000683237.1:c.383G>A | ENSP00000507343.1:p.Arg128His | |
| ENST00000683856.1:c.206G>A | ENSP00000507979.1:p.Arg69His | |
| ENST00000684006.1:c.383G>A | ENSP00000507269.1:p.Arg128His | |
| ENST00000684657.1:c.203G>A | ENSP00000507961.1:p.Arg68His | |
| ENST00000279146.8:c.383G>A MANE Select | ENSP00000279146.3:p.Arg128His | |
| ENST00000279146.7:c.383G>A | ENSP00000279146.3:p.Arg128His | |
| ENST00000525341.1:c.35G>A | ENSP00000476993.1:p.Arg12His | |
| ENST00000528641.6:c.280-668G>A | ENSP00000434982.2:n.280-668G>A | |
| ENST00000529797.1:n.493G>A | ||
| NM_001302959.1:c.206G>A | NP_001289888.1:p.Arg69His | |
| NM_001302960.1:c.383G>A | NP_001289889.1:p.Arg128His | |
| NM_003977.3:c.383G>A | NP_003968.3:p.Arg128His | |
| XM_024448761.1:c.383G>A | XP_024304529.1:p.Arg128His | |
| NM_003977.4:c.383G>A MANE Select | NP_003968.3:p.Arg128His | |
| NM_001302960.2:c.383G>A | NP_001289889.1:p.Arg128His | |
| NM_001302959.2:c.206G>A | NP_001289888.1:p.Arg69His |