Linked Data
ClinVar Variation Id:
230212
ClinVar RCV Id:
RCV000223283
RCV000228912
RCV000430001
RCV000589126
RCV002225516
RCV003407748
RCV003491968
dbSNP Id:
rs377227840
ExAC:
2:215595163 C / T
gnomAD v2:
2-215595163-C-T
gnomAD v3:
2-214730439-C-T
gnomAD v4:
2-214730439-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730439C>T , CM000664.2:g.214730439C>T | GRCh38 |
| NC_000002.11:g.215595163C>T , CM000664.1:g.215595163C>T | GRCh37 |
| NC_000002.10:g.215303408C>T | NCBI36 |
| NG_012047.2:g.84266G>A | |
| NG_012047.3:g.84273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1973G>A MANE Select | ENSP00000260947.4:p.Arg658His | |
| ENST00000421162.2:c.620G>A | ENSP00000392245.2:p.Arg207His | |
| ENST00000613192.2:c.*36G>A | ENSP00000483275.2:n.*36G>A | |
| ENST00000613374.5:c.563G>A | ENSP00000484464.1:p.Arg188His | |
| ENST00000613706.5:c.1565G>A | ENSP00000484976.2:p.Arg522His | |
| ENST00000617164.5:c.1916G>A | ENSP00000480470.1:p.Arg639His | |
| ENST00000619009.5:c.434G>A | ENSP00000482293.1:p.Arg145His | |
| ENST00000650978.1:c.3348G>A | ||
| ENST00000260947.8:c.1973G>A | ENSP00000260947.4:p.Arg658His | |
| ENST00000421162.1:c.620G>A | ENSP00000392245.1:p.Arg207His | |
| ENST00000432456.5:c.70G>A | ||
| ENST00000455743.5:c.*1593G>A | ENSP00000412186.1:n.*1593G>A | |
| ENST00000471590.5:n.308G>A | ||
| ENST00000613192.1:c.143G>A | ENSP00000483275.1:p.Arg48His | |
| ENST00000613374.4:c.563G>A | ENSP00000484464.1:p.Arg188His | |
| ENST00000613706.4:c.620G>A | ENSP00000484976.1:p.Arg207His | |
| ENST00000617164.4:c.1916G>A | ENSP00000480470.1:p.Arg639His | |
| ENST00000619009.4:c.434G>A | ENSP00000482293.1:p.Arg145His | |
| ENST00000620057.4:c.*639G>A | ENSP00000481988.1:n.*639G>A | |
| NM_000465.3:c.1973G>A | NP_000456.2:p.Arg658His | |
| NM_001282543.1:c.1916G>A | NP_001269472.1:p.Arg639His | |
| NM_001282545.1:c.620G>A | NP_001269474.1:p.Arg207His | |
| NM_001282548.1:c.563G>A | NP_001269477.1:p.Arg188His | |
| NM_001282549.1:c.434G>A | NP_001269478.1:p.Arg145His | |
| NR_104212.1:n.1966G>A | ||
| NR_104215.1:n.1909G>A | ||
| NR_104216.1:n.1165G>A | ||
| XM_011511567.1:c.1919G>A | XP_011509869.1:p.Arg640His | |
| XM_017004613.1:c.2072G>A | XP_016860102.1:p.Arg691His | |
| XR_002959322.1:n.2163G>A | ||
| NM_000465.4:c.1973G>A MANE Select | NP_000456.2:p.Arg658His | |
| NM_001282543.2:c.1916G>A | NP_001269472.1:p.Arg639His | |
| NM_001282545.2:c.620G>A | NP_001269474.1:p.Arg207His | |
| NM_001282548.2:c.563G>A | NP_001269477.1:p.Arg188His | |
| NM_001282549.2:c.434G>A | NP_001269478.1:p.Arg145His | |
| NR_104212.2:n.1938G>A | ||
| NR_104215.2:n.1881G>A | ||
| NR_104216.2:n.1137G>A |