Linked Data
ClinVar Variation Id:
237832
dbSNP Id:
rs878854008
gnomAD v2:
2-215593450-A-G
gnomAD v4:
2-214728726-A-G
PubMed:
PMID:25452441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728726A>G , CM000664.2:g.214728726A>G | GRCh38 |
| NC_000002.11:g.215593450A>G , CM000664.1:g.215593450A>G | GRCh37 |
| NC_000002.10:g.215301695A>G | NCBI36 |
| NG_012047.2:g.85979T>C | |
| NG_012047.3:g.85986T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2284T>C MANE Select | ENSP00000260947.4:p.Trp762Arg | |
| ENST00000421162.2:c.931T>C | ENSP00000392245.2:p.Trp311Arg | |
| ENST00000613192.2:c.*347T>C | ENSP00000483275.2:n.*347T>C | |
| ENST00000613374.5:c.874T>C | ENSP00000484464.1:p.Trp292Arg | |
| ENST00000613706.5:c.1876T>C | ENSP00000484976.2:p.Trp626Arg | |
| ENST00000617164.5:c.2227T>C | ENSP00000480470.1:p.Trp743Arg | |
| ENST00000619009.5:c.745T>C | ENSP00000482293.1:p.Trp249Arg | |
| ENST00000650978.1:c.3659T>C | ||
| ENST00000260947.8:c.2284T>C | ENSP00000260947.4:p.Trp762Arg | |
| ENST00000432456.5:c.427T>C | ||
| ENST00000455743.5:c.*1904T>C | ENSP00000412186.1:n.*1904T>C | |
| ENST00000471590.5:n.619T>C | ||
| ENST00000613192.1:c.454T>C | ENSP00000483275.1:p.Trp152Arg | |
| ENST00000613374.4:c.874T>C | ENSP00000484464.1:p.Trp292Arg | |
| ENST00000613706.4:c.931T>C | ENSP00000484976.1:p.Trp311Arg | |
| ENST00000617164.4:c.2227T>C | ENSP00000480470.1:p.Trp743Arg | |
| ENST00000619009.4:c.745T>C | ENSP00000482293.1:p.Trp249Arg | |
| ENST00000620057.4:c.*950T>C | ENSP00000481988.1:n.*950T>C | |
| NM_000465.3:c.2284T>C | NP_000456.2:p.Trp762Arg | |
| NM_001282543.1:c.2227T>C | NP_001269472.1:p.Trp743Arg | |
| NM_001282545.1:c.931T>C | NP_001269474.1:p.Trp311Arg | |
| NM_001282548.1:c.874T>C | NP_001269477.1:p.Trp292Arg | |
| NM_001282549.1:c.745T>C | NP_001269478.1:p.Trp249Arg | |
| NR_104212.1:n.2277T>C | ||
| NR_104215.1:n.2220T>C | ||
| NR_104216.1:n.1476T>C | ||
| XM_011511567.1:c.2230T>C | XP_011509869.1:p.Trp744Arg | |
| XM_017004613.1:c.2383T>C | XP_016860102.1:p.Trp795Arg | |
| XR_002959322.1:n.2650T>C | ||
| NM_000465.4:c.2284T>C MANE Select | NP_000456.2:p.Trp762Arg | |
| NM_001282543.2:c.2227T>C | NP_001269472.1:p.Trp743Arg | |
| NM_001282545.2:c.931T>C | NP_001269474.1:p.Trp311Arg | |
| NM_001282548.2:c.874T>C | NP_001269477.1:p.Trp292Arg | |
| NM_001282549.2:c.745T>C | NP_001269478.1:p.Trp249Arg | |
| NR_104212.2:n.2249T>C | ||
| NR_104215.2:n.2192T>C | ||
| NR_104216.2:n.1448T>C |