Linked Data
ClinVar Variation Id:
218337
ClinVar RCV Id:
RCV000202576
dbSNP Id:
rs370266293
PubMed:
PMID:22723944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346679C>G , CM000677.2:g.72346679C>G | GRCh38 |
| NC_000015.9:g.72639020C>G , CM000677.1:g.72639020C>G | GRCh37 |
| NC_000015.8:g.70426074C>G | NCBI36 |
| NG_009017.1:g.34501G>C | |
| NG_009017.2:g.34501G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-354G>C | ENSP00000457521.2:n.1074-354G>C | |
| ENST00000682061.1:c.*840G>C | ENSP00000508316.1:n.*840G>C | |
| ENST00000682064.1:n.520G>C | ||
| ENST00000682177.1:c.1221G>C | ENSP00000507409.1:n.1221G>C | |
| ENST00000682235.1:n.517G>C | ||
| ENST00000682461.1:c.1284G>C | ENSP00000507308.1:n.1284G>C | |
| ENST00000682653.1:n.1498G>C | ||
| ENST00000682657.1:c.*484-354G>C | ENSP00000507753.1:n.*484-354G>C | |
| ENST00000682721.1:c.*981G>C | ENSP00000507535.1:n.*981G>C | |
| ENST00000682843.1:c.*972-354G>C | ENSP00000508173.1:n.*972-354G>C | |
| ENST00000683003.1:c.*484-354G>C | ENSP00000507576.1:n.*484-354G>C | |
| ENST00000683133.1:c.1362G>C | ENSP00000508108.1:n.1362G>C | |
| ENST00000683243.1:c.*484-354G>C | ENSP00000507042.1:n.*484-354G>C | |
| ENST00000683463.1:c.1105G>C | ENSP00000507986.1:p.Glu369Gln | |
| ENST00000683548.1:n.1105-354G>C | ||
| ENST00000683579.1:c.*1076G>C | ENSP00000506867.1:n.*1076G>C | |
| ENST00000683587.1:n.1178-354G>C | ||
| ENST00000683681.1:c.1178G>C | ENSP00000508110.1:p.Arg393Pro | |
| ENST00000683735.1:c.*1045-354G>C | ENSP00000508336.1:n.*1045-354G>C | |
| ENST00000683853.1:c.1105G>C | ENSP00000506834.1:p.Glu369Gln | |
| ENST00000683860.1:c.1178G>C | ENSP00000507179.1:p.Arg393Pro | |
| ENST00000683884.1:c.1147-354G>C | ENSP00000507004.1:n.1147-354G>C | |
| ENST00000684041.1:c.1178G>C | ENSP00000508382.1:p.Arg393Pro | |
| ENST00000684125.1:c.1074-354G>C | ENSP00000507320.1:n.1074-354G>C | |
| ENST00000684203.1:n.2943G>C | ||
| ENST00000684231.1:c.*588G>C | ENSP00000507748.1:n.*588G>C | |
| ENST00000684263.1:c.*118G>C | ENSP00000508369.1:n.*118G>C | |
| ENST00000684305.1:c.1626G>C | ENSP00000506819.1:n.1626G>C | |
| ENST00000684415.1:c.*45G>C | ENSP00000507227.1:n.*45G>C | |
| ENST00000684520.1:c.1178G>C | ENSP00000506826.1:p.Arg393Pro | |
| ENST00000684602.1:c.*844G>C | ENSP00000507996.1:n.*844G>C | |
| ENST00000684667.1:c.1509G>C | ENSP00000507003.1:n.1509G>C | |
| ENST00000268097.10:c.1178G>C MANE Select | ENSP00000268097.6:p.Arg393Pro | |
| ENST00000268097.9:c.1178G>C | ENSP00000268097.5:p.Arg393Pro | |
| ENST00000379915.4:c.413-354G>C | ENSP00000478716.1:n.413-354G>C | |
| ENST00000563762.5:c.826-354G>C | ENSP00000456346.1:n.826-354G>C | |
| ENST00000566304.5:c.1211G>C | ENSP00000455114.1:p.Arg404Pro | |
| ENST00000566672.5:c.*588G>C | ENSP00000457037.1:n.*588G>C | |
| ENST00000567027.5:c.946-354G>C | ||
| ENST00000567159.5:c.1178G>C | ENSP00000456489.1:p.Arg393Pro | |
| ENST00000567411.5:c.*699G>C | ENSP00000455545.1:n.*699G>C | |
| ENST00000568777.5:n.6551-354G>C | ||
| ENST00000569410.5:c.1105G>C | ENSP00000457125.1:p.Glu369Gln | |
| NM_000520.4:c.1178G>C | NP_000511.2:p.Arg393Pro | |
| NM_000520.5:c.1178G>C | NP_000511.2:p.Arg393Pro | |
| NM_001318825.1:c.1211G>C | NP_001305754.1:p.Arg404Pro | |
| NR_134869.1:n.1575-354G>C | ||
| NM_000520.6:c.1178G>C MANE Select | NP_000511.2:p.Arg393Pro | |
| NM_001318825.2:c.1211G>C | NP_001305754.1:p.Arg404Pro | |
| NR_134869.2:n.1116-354G>C | ||
| NR_134869.3:n.1116-354G>C |