Linked Data
ClinVar Variation Id:
1425182
ClinVar RCV Id:
RCV001957357
dbSNP Id:
rs766988109
ExAC:
15:72638960 C / G
gnomAD v2:
15-72638960-C-G
gnomAD v4:
15-72346619-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346619C>G , CM000677.2:g.72346619C>G | GRCh38 |
| NC_000015.9:g.72638960C>G , CM000677.1:g.72638960C>G | GRCh37 |
| NC_000015.8:g.70426014C>G | NCBI36 |
| NG_009017.1:g.34561G>C | |
| NG_009017.2:g.34561G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567027.6:c.1074-294G>C | ENSP00000457521.2:n.1074-294G>C | |
| ENST00000682061.1:c.*900G>C | ENSP00000508316.1:n.*900G>C | |
| ENST00000682064.1:n.580G>C | ||
| ENST00000682177.1:c.1281G>C | ENSP00000507409.1:n.1281G>C | |
| ENST00000682235.1:n.577G>C | ||
| ENST00000682461.1:c.1344G>C | ENSP00000507308.1:n.1344G>C | |
| ENST00000682653.1:n.1558G>C | ||
| ENST00000682657.1:c.*484-294G>C | ENSP00000507753.1:n.*484-294G>C | |
| ENST00000682721.1:c.*1041G>C | ENSP00000507535.1:n.*1041G>C | |
| ENST00000682843.1:c.*972-294G>C | ENSP00000508173.1:n.*972-294G>C | |
| ENST00000683003.1:c.*484-294G>C | ENSP00000507576.1:n.*484-294G>C | |
| ENST00000683133.1:c.1422G>C | ENSP00000508108.1:n.1422G>C | |
| ENST00000683243.1:c.*484-294G>C | ENSP00000507042.1:n.*484-294G>C | |
| ENST00000683463.1:c.*43G>C | ENSP00000507986.1:n.*43G>C | |
| ENST00000683548.1:n.1105-294G>C | ||
| ENST00000683579.1:c.*1136G>C | ENSP00000506867.1:n.*1136G>C | |
| ENST00000683587.1:n.1178-294G>C | ||
| ENST00000683681.1:c.1238G>C | ENSP00000508110.1:p.Arg413Pro | |
| ENST00000683735.1:c.*1045-294G>C | ENSP00000508336.1:n.*1045-294G>C | |
| ENST00000683853.1:c.*43G>C | ENSP00000506834.1:n.*43G>C | |
| ENST00000683860.1:c.1238G>C | ENSP00000507179.1:p.Arg413Pro | |
| ENST00000683884.1:c.1147-294G>C | ENSP00000507004.1:n.1147-294G>C | |
| ENST00000684041.1:c.1238G>C | ENSP00000508382.1:p.Arg413Pro | |
| ENST00000684125.1:c.1074-294G>C | ENSP00000507320.1:n.1074-294G>C | |
| ENST00000684203.1:n.3003G>C | ||
| ENST00000684231.1:c.*648G>C | ENSP00000507748.1:n.*648G>C | |
| ENST00000684263.1:c.*178G>C | ENSP00000508369.1:n.*178G>C | |
| ENST00000684305.1:c.1686G>C | ENSP00000506819.1:n.1686G>C | |
| ENST00000684415.1:c.*105G>C | ENSP00000507227.1:n.*105G>C | |
| ENST00000684520.1:c.1238G>C | ENSP00000506826.1:p.Arg413Pro | |
| ENST00000684602.1:c.*904G>C | ENSP00000507996.1:n.*904G>C | |
| ENST00000684667.1:c.1569G>C | ENSP00000507003.1:n.1569G>C | |
| ENST00000268097.10:c.1238G>C MANE Select | ENSP00000268097.6:p.Arg413Pro | |
| ENST00000268097.9:c.1238G>C | ENSP00000268097.5:p.Arg413Pro | |
| ENST00000379915.4:c.413-294G>C | ENSP00000478716.1:n.413-294G>C | |
| ENST00000563762.5:c.826-294G>C | ENSP00000456346.1:n.826-294G>C | |
| ENST00000566304.5:c.1271G>C | ENSP00000455114.1:p.Arg424Pro | |
| ENST00000566672.5:c.*648G>C | ENSP00000457037.1:n.*648G>C | |
| ENST00000567027.5:c.946-294G>C | ||
| ENST00000567159.5:c.1238G>C | ENSP00000456489.1:p.Arg413Pro | |
| ENST00000567411.5:c.*759G>C | ENSP00000455545.1:n.*759G>C | |
| ENST00000568777.5:n.6551-294G>C | ||
| ENST00000569410.5:c.*43G>C | ENSP00000457125.1:n.*43G>C | |
| NM_000520.4:c.1238G>C | NP_000511.2:p.Arg413Pro | |
| NM_000520.5:c.1238G>C | NP_000511.2:p.Arg413Pro | |
| NM_001318825.1:c.1271G>C | NP_001305754.1:p.Arg424Pro | |
| NR_134869.1:n.1575-294G>C | ||
| NM_000520.6:c.1238G>C MANE Select | NP_000511.2:p.Arg413Pro | |
| NM_001318825.2:c.1271G>C | NP_001305754.1:p.Arg424Pro | |
| NR_134869.2:n.1116-294G>C | ||
| NR_134869.3:n.1116-294G>C |