Linked Data
ClinVar Variation Id:
387519
ClinVar RCV Id:
RCV000435863
dbSNP Id:
rs1057522809
COSMIC:
COSM1161282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46839553C>T , CM000681.2:g.46839553C>T | GRCh38 |
| NC_000019.9:g.47342810C>T , CM000681.1:g.47342810C>T | GRCh37 |
| NC_000019.8:g.52034650C>T | NCBI36 |
| NG_033136.1:g.16394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263270.11:c.179G>A MANE Select | ENSP00000263270.6:p.Arg60His | |
| ENST00000263270.10:c.179G>A | ENSP00000263270.5:p.Arg60His | |
| ENST00000352203.8:c.221G>A | ENSP00000263271.6:p.Arg74His | |
| ENST00000593442.5:c.29G>A | ENSP00000472080.1:p.Arg10His | |
| ENST00000597020.5:c.119G>A | ENSP00000470235.1:p.Arg40His | |
| ENST00000598027.1:n.104G>A | ||
| ENST00000599990.5:c.185G>A | ENSP00000471340.1:p.Arg62His | |
| ENST00000601498.5:c.227G>A | ENSP00000470176.1:p.Arg76His | |
| ENST00000601649.1:c.154-754G>A | ENSP00000470898.1:n.154-754G>A | |
| NM_001301076.1:c.227G>A | NP_001288005.1:p.Arg76His | |
| NM_001301078.1:c.221G>A | NP_001288007.1:p.Arg74His | |
| NM_001301081.1:c.185G>A | NP_001288010.1:p.Arg62His | |
| NM_004069.4:c.179G>A | NP_004060.2:p.Arg60His | |
| NM_021575.3:c.154-754G>A | NP_067586.1:n.154-754G>A | |
| XM_011526423.1:c.269G>A | XP_011524725.1:p.Arg90His | |
| XM_011526424.1:c.227G>A | XP_011524726.1:p.Arg76His | |
| XM_011526423.2:c.269G>A | XP_011524725.1:p.Arg90His | |
| XM_011526424.3:c.227G>A | XP_011524726.1:p.Arg76His | |
| NM_001301076.2:c.227G>A | NP_001288005.1:p.Arg76His | |
| NM_001301078.2:c.221G>A | NP_001288007.1:p.Arg74His | |
| NM_001301081.2:c.185G>A | NP_001288010.1:p.Arg62His | |
| NM_004069.6:c.179G>A MANE Select | NP_004060.2:p.Arg60His | |
| NM_021575.4:c.154-754G>A | NP_067586.1:n.154-754G>A | |
| NM_001301076.3:c.227G>A | NP_001288005.1:p.Arg76His | |
| NM_001301078.3:c.221G>A | NP_001288007.1:p.Arg74His | |
| NM_001301081.3:c.185G>A | NP_001288010.1:p.Arg62His | |
| NM_021575.5:c.154-754G>A | NP_067586.1:n.154-754G>A |