Linked Data
ClinVar Variation Id:
225196
dbSNP Id:
rs869320660
ERepo:
CA358793/MONDO:0010315/129
PubMed:
PMID:20301584
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71109308C>T , CM000685.2:g.71109308C>T | GRCh38 |
| NC_000023.10:g.70329158C>T , CM000685.1:g.70329158C>T | GRCh37 |
| NC_000023.9:g.70245883C>T | NCBI36 |
| NG_009088.1:g.7246G>A , LRG_150:g.7246G>A | |
| NG_021141.1:g.2481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.677G>A | ENSP00000421262.2:p.Arg226His | |
| ENST00000696903.1:n.728G>A | ||
| ENST00000374202.7:c.677G>A MANE Select | ENSP00000363318.3:p.Arg226His | |
| ENST00000642473.1:n.1041G>A | ||
| ENST00000644022.1:n.943G>A | ||
| ENST00000644708.1:n.1083G>A | ||
| ENST00000644911.1:n.1083G>A | ||
| ENST00000645266.1:c.677G>A | ENSP00000493734.1:p.Arg226His | |
| ENST00000645518.1:c.677G>A | ENSP00000493986.1:p.Arg226His | |
| ENST00000646106.1:c.677G>A | ENSP00000496437.1:p.Arg226His | |
| ENST00000646505.1:c.677G>A | ENSP00000496673.1:p.Arg226His | |
| ENST00000647492.1:c.677G>A | ENSP00000495340.1:p.Arg226His | |
| ENST00000276110.6:n.1270G>A | ||
| ENST00000374188.7:c.-40G>A | ENSP00000363303.3:n.-40G>A | |
| ENST00000374202.6:c.677G>A | ENSP00000363318.2:p.Arg226His | |
| ENST00000456850.6:c.107G>A | ENSP00000388967.2:p.Arg36His | |
| ENST00000464642.5:c.545G>A | ENSP00000425233.1:p.Arg182His | |
| ENST00000482750.5:c.90G>A | ||
| ENST00000512747.3:n.604G>A | ||
| NM_000206.2:c.677G>A , LRG_150t1:c.677G>A | NP_000197.1:p.Arg226His | |
| NM_000206.3:c.677G>A MANE Select | NP_000197.1:p.Arg226His |