Linked Data
ClinVar Variation Id:
1416006
ClinVar RCV Id:
RCV001933367
dbSNP Id:
rs988192535
gnomAD v2:
15-72639030-G-C
gnomAD v3:
15-72346689-G-C
gnomAD v4:
15-72346689-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346689G>C , CM000677.2:g.72346689G>C | GRCh38 |
| NC_000015.9:g.72639030G>C , CM000677.1:g.72639030G>C | GRCh37 |
| NC_000015.8:g.70426084G>C | NCBI36 |
| NG_009017.1:g.34491C>G | |
| NG_009017.2:g.34491C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-364C>G | ENSP00000457521.2:n.1074-364C>G | |
| ENST00000682061.1:c.*830C>G | ENSP00000508316.1:n.*830C>G | |
| ENST00000682064.1:n.510C>G | ||
| ENST00000682177.1:c.1211C>G | ENSP00000507409.1:n.1211C>G | |
| ENST00000682235.1:n.507C>G | ||
| ENST00000682461.1:c.1274C>G | ENSP00000507308.1:n.1274C>G | |
| ENST00000682653.1:n.1488C>G | ||
| ENST00000682657.1:c.*484-364C>G | ENSP00000507753.1:n.*484-364C>G | |
| ENST00000682721.1:c.*971C>G | ENSP00000507535.1:n.*971C>G | |
| ENST00000682843.1:c.*972-364C>G | ENSP00000508173.1:n.*972-364C>G | |
| ENST00000683003.1:c.*484-364C>G | ENSP00000507576.1:n.*484-364C>G | |
| ENST00000683133.1:c.1352C>G | ENSP00000508108.1:n.1352C>G | |
| ENST00000683243.1:c.*484-364C>G | ENSP00000507042.1:n.*484-364C>G | |
| ENST00000683463.1:c.1095C>G | ENSP00000507986.1:p.Tyr365Ter | |
| ENST00000683548.1:n.1105-364C>G | ||
| ENST00000683579.1:c.*1066C>G | ENSP00000506867.1:n.*1066C>G | |
| ENST00000683587.1:n.1178-364C>G | ||
| ENST00000683681.1:c.1168C>G | ENSP00000508110.1:p.Gln390Glu | |
| ENST00000683735.1:c.*1045-364C>G | ENSP00000508336.1:n.*1045-364C>G | |
| ENST00000683853.1:c.1095C>G | ENSP00000506834.1:p.Tyr365Ter | |
| ENST00000683860.1:c.1168C>G | ENSP00000507179.1:p.Gln390Glu | |
| ENST00000683884.1:c.1147-364C>G | ENSP00000507004.1:n.1147-364C>G | |
| ENST00000684041.1:c.1168C>G | ENSP00000508382.1:p.Gln390Glu | |
| ENST00000684125.1:c.1074-364C>G | ENSP00000507320.1:n.1074-364C>G | |
| ENST00000684203.1:n.2933C>G | ||
| ENST00000684231.1:c.*578C>G | ENSP00000507748.1:n.*578C>G | |
| ENST00000684263.1:c.*108C>G | ENSP00000508369.1:n.*108C>G | |
| ENST00000684305.1:c.1616C>G | ENSP00000506819.1:n.1616C>G | |
| ENST00000684415.1:c.*35C>G | ENSP00000507227.1:n.*35C>G | |
| ENST00000684520.1:c.1168C>G | ENSP00000506826.1:p.Gln390Glu | |
| ENST00000684602.1:c.*834C>G | ENSP00000507996.1:n.*834C>G | |
| ENST00000684667.1:c.1499C>G | ENSP00000507003.1:n.1499C>G | |
| ENST00000268097.10:c.1168C>G MANE Select | ENSP00000268097.6:p.Gln390Glu | |
| ENST00000268097.9:c.1168C>G | ENSP00000268097.5:p.Gln390Glu | |
| ENST00000379915.4:c.413-364C>G | ENSP00000478716.1:n.413-364C>G | |
| ENST00000563762.5:c.826-364C>G | ENSP00000456346.1:n.826-364C>G | |
| ENST00000566304.5:c.1201C>G | ENSP00000455114.1:p.Gln401Glu | |
| ENST00000566672.5:c.*578C>G | ENSP00000457037.1:n.*578C>G | |
| ENST00000567027.5:c.946-364C>G | ||
| ENST00000567159.5:c.1168C>G | ENSP00000456489.1:p.Gln390Glu | |
| ENST00000567411.5:c.*689C>G | ENSP00000455545.1:n.*689C>G | |
| ENST00000568777.5:n.6551-364C>G | ||
| ENST00000569410.5:c.1095C>G | ENSP00000457125.1:p.Tyr365Ter | |
| NM_000520.4:c.1168C>G | NP_000511.2:p.Gln390Glu | |
| NM_000520.5:c.1168C>G | NP_000511.2:p.Gln390Glu | |
| NM_001318825.1:c.1201C>G | NP_001305754.1:p.Gln401Glu | |
| NR_134869.1:n.1575-364C>G | ||
| NM_000520.6:c.1168C>G MANE Select | NP_000511.2:p.Gln390Glu | |
| NM_001318825.2:c.1201C>G | NP_001305754.1:p.Gln401Glu | |
| NR_134869.2:n.1116-364C>G | ||
| NR_134869.3:n.1116-364C>G |