Linked Data
ClinVar Variation Id:
2280
ClinVar RCV Id:
RCV000002369
RCV000199654
RCV000239892
RCV000472857
RCV000624830
RCV000778183
RCV001173687
RCV001775061
RCV002247240
RCV002476912
RCV002285136
RCV002508915
RCV003231070
RCV003319157
dbSNP Id:
rs119103267
ExAC:
1:12069698 C / T
gnomAD v2:
1-12069698-C-T
gnomAD v3:
1-12009641-C-T
gnomAD v4:
1-12009641-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12009641C>T , CM000663.2:g.12009641C>T | GRCh38 |
| NC_000001.10:g.12069698C>T , CM000663.1:g.12069698C>T | GRCh37 |
| NC_000001.9:g.11992285C>T | NCBI36 |
| NG_007945.1:g.34461C>T , LRG_255:g.34461C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235329.10:c.2119C>T MANE Select | ENSP00000235329.5:p.Arg707Trp | |
| ENST00000674548.1:c.2119C>T | ENSP00000502185.1:p.Arg707Trp | |
| ENST00000674658.1:c.1774C>T | ENSP00000502334.1:p.Arg592Trp | |
| ENST00000674817.1:c.2119C>T | ENSP00000502151.1:p.Arg707Trp | |
| ENST00000674910.1:c.2119C>T | ENSP00000501716.1:p.Arg707Trp | |
| ENST00000675043.1:n.87C>T | ||
| ENST00000675053.1:c.2119C>T | ENSP00000501646.1:p.Arg707Trp | |
| ENST00000675113.1:c.2119C>T | ENSP00000502623.1:p.Arg707Trp | |
| ENST00000675231.1:c.2119C>T | ENSP00000502404.1:p.Arg707Trp | |
| ENST00000675298.1:c.2119C>T | ENSP00000501839.1:p.Arg707Trp | |
| ENST00000675404.1:n.2354C>T | ||
| ENST00000675483.1:n.2247C>T | ||
| ENST00000675512.1:c.*2121C>T | ENSP00000502630.1:n.*2121C>T | |
| ENST00000675528.1:n.1610C>T | ||
| ENST00000675817.1:c.2251C>T | ENSP00000502422.1:p.Arg751Trp | |
| ENST00000675872.1:n.2479C>T | ||
| ENST00000675919.1:c.2119C>T | ENSP00000501776.1:p.Arg707Trp | |
| ENST00000675959.1:n.2625C>T | ||
| ENST00000675987.1:c.*92C>T | ENSP00000502145.1:n.*92C>T | |
| ENST00000676293.1:c.2119C>T | ENSP00000502362.1:p.Arg707Trp | |
| ENST00000676295.1:n.532C>T | ||
| ENST00000676426.1:c.*1119C>T | ENSP00000502359.1:n.*1119C>T | |
| ENST00000235329.9:c.2119C>T | ENSP00000235329.5:p.Arg707Trp | |
| ENST00000444836.5:c.2119C>T | ENSP00000416338.1:p.Arg707Trp | |
| NM_001127660.1:c.2119C>T | NP_001121132.1:p.Arg707Trp | |
| NM_014874.3:c.2119C>T , LRG_255t1:c.2119C>T | NP_055689.1:p.Arg707Trp | |
| XM_005263543.2:c.2119C>T | XP_005263600.1:p.Arg707Trp | |
| XM_005263545.2:c.2119C>T | XP_005263602.1:p.Arg707Trp | |
| XM_005263547.2:c.2119C>T | XP_005263604.1:p.Arg707Trp | |
| XM_005263548.2:c.2119C>T | XP_005263605.1:p.Arg707Trp | |
| XM_005263543.3:c.2119C>T | XP_005263600.1:p.Arg707Trp | |
| XM_005263545.3:c.2119C>T | XP_005263602.1:p.Arg707Trp | |
| XM_005263547.3:c.2119C>T | XP_005263604.1:p.Arg707Trp | |
| XM_005263548.3:c.2119C>T | XP_005263605.1:p.Arg707Trp | |
| XM_024451299.1:c.2119C>T | XP_024307067.1:p.Arg707Trp | |
| NM_014874.4:c.2119C>T MANE Select | NP_055689.1:p.Arg707Trp | |
| NM_001127660.2:c.2119C>T | NP_001121132.1:p.Arg707Trp |