Linked Data
ClinVar Variation Id:
375354
ClinVar RCV Id:
RCV000416461
dbSNP Id:
rs543071358
gnomAD v4:
15-72351189-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72351189C>G , CM000677.2:g.72351189C>G | GRCh38 |
| NC_000015.9:g.72643530C>G , CM000677.1:g.72643530C>G | GRCh37 |
| NC_000015.8:g.70430584C>G | NCBI36 |
| NG_009017.1:g.29991G>C | |
| NG_009017.2:g.29991G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563908.2:n.2962G>C | ||
| ENST00000567027.6:c.616G>C | ENSP00000457521.2:p.Val206Leu | |
| ENST00000568260.2:c.636G>C | ENSP00000458128.2:n.636G>C | |
| ENST00000682061.1:c.*278G>C | ENSP00000508316.1:n.*278G>C | |
| ENST00000682177.1:c.616G>C | ENSP00000507409.1:p.Val206Leu | |
| ENST00000682461.1:c.722G>C | ENSP00000507308.1:n.722G>C | |
| ENST00000682653.1:n.647G>C | ||
| ENST00000682657.1:c.*26G>C | ENSP00000507753.1:n.*26G>C | |
| ENST00000682721.1:c.*419G>C | ENSP00000507535.1:n.*419G>C | |
| ENST00000682843.1:c.*514G>C | ENSP00000508173.1:n.*514G>C | |
| ENST00000683003.1:c.*26G>C | ENSP00000507576.1:n.*26G>C | |
| ENST00000683133.1:c.800G>C | ENSP00000508108.1:n.800G>C | |
| ENST00000683228.1:n.647G>C | ||
| ENST00000683243.1:c.*26G>C | ENSP00000507042.1:n.*26G>C | |
| ENST00000683463.1:c.616G>C | ENSP00000507986.1:p.Val206Leu | |
| ENST00000683548.1:n.647G>C | ||
| ENST00000683579.1:c.*514G>C | ENSP00000506867.1:n.*514G>C | |
| ENST00000683587.1:n.647G>C | ||
| ENST00000683681.1:c.616G>C | ENSP00000508110.1:p.Val206Leu | |
| ENST00000683735.1:c.*514G>C | ENSP00000508336.1:n.*514G>C | |
| ENST00000683742.1:n.447G>C | ||
| ENST00000683853.1:c.616G>C | ENSP00000506834.1:p.Val206Leu | |
| ENST00000683860.1:c.616G>C | ENSP00000507179.1:p.Val206Leu | |
| ENST00000683884.1:c.616G>C | ENSP00000507004.1:p.Val206Leu | |
| ENST00000684041.1:c.616G>C | ENSP00000508382.1:p.Val206Leu | |
| ENST00000684125.1:c.616G>C | ENSP00000507320.1:p.Val206Leu | |
| ENST00000684203.1:n.2454G>C | ||
| ENST00000684231.1:c.*26G>C | ENSP00000507748.1:n.*26G>C | |
| ENST00000684263.1:c.616G>C | ENSP00000508369.1:p.Val206Leu | |
| ENST00000684305.1:c.1064G>C | ENSP00000506819.1:n.1064G>C | |
| ENST00000684415.1:c.616G>C | ENSP00000507227.1:p.Val206Leu | |
| ENST00000684520.1:c.616G>C | ENSP00000506826.1:p.Val206Leu | |
| ENST00000684602.1:c.*282G>C | ENSP00000507996.1:n.*282G>C | |
| ENST00000684667.1:c.947G>C | ENSP00000507003.1:n.947G>C | |
| ENST00000268097.10:c.616G>C MANE Select | ENSP00000268097.6:p.Val206Leu | |
| ENST00000268097.9:c.616G>C | ENSP00000268097.5:p.Val206Leu | |
| ENST00000379915.4:c.412+4370G>C | ENSP00000478716.1:n.412+4370G>C | |
| ENST00000563762.5:c.549G>C | ENSP00000456346.1:n.549G>C | |
| ENST00000566304.5:c.649G>C | ENSP00000455114.1:p.Val217Leu | |
| ENST00000566672.5:c.*26G>C | ENSP00000457037.1:n.*26G>C | |
| ENST00000567027.5:c.488G>C | ||
| ENST00000567159.5:c.616G>C | ENSP00000456489.1:p.Val206Leu | |
| ENST00000567411.5:c.*137G>C | ENSP00000455545.1:n.*137G>C | |
| ENST00000568260.1:c.617G>C | ||
| ENST00000568777.5:n.6020G>C | ||
| ENST00000569410.5:c.616G>C | ENSP00000457125.1:p.Val206Leu | |
| ENST00000569509.5:n.463G>C | ||
| NM_000520.4:c.616G>C | NP_000511.2:p.Val206Leu | |
| NM_000520.5:c.616G>C | NP_000511.2:p.Val206Leu | |
| NM_001318825.1:c.649G>C | NP_001305754.1:p.Val217Leu | |
| NR_134869.1:n.1117G>C | ||
| NM_000520.6:c.616G>C MANE Select | NP_000511.2:p.Val206Leu | |
| NM_001318825.2:c.649G>C | NP_001305754.1:p.Val217Leu | |
| NR_134869.2:n.658G>C | ||
| NR_134869.3:n.658G>C |