Linked Data
ClinVar Variation Id:
3912
dbSNP Id:
rs28941770
gnomAD v3:
15-72353105-C-A
gnomAD v4:
15-72353105-C-A
PubMed:
PMID:1833974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72353105C>A , CM000677.2:g.72353105C>A | GRCh38 |
| NC_000015.9:g.72645446C>A , CM000677.1:g.72645446C>A | GRCh37 |
| NC_000015.8:g.70432500C>A | NCBI36 |
| NG_009017.1:g.28075G>T | |
| NG_009017.2:g.28075G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563908.2:n.2879G>T | ||
| ENST00000567027.6:c.533G>T | ENSP00000457521.2:p.Arg178Leu | |
| ENST00000568260.2:c.553G>T | ENSP00000458128.2:n.553G>T | |
| ENST00000682061.1:c.*195G>T | ENSP00000508316.1:n.*195G>T | |
| ENST00000682177.1:c.533G>T | ENSP00000507409.1:p.Arg178Leu | |
| ENST00000682461.1:c.677-1871G>T | ENSP00000507308.1:n.677-1871G>T | |
| ENST00000682653.1:n.564G>T | ||
| ENST00000682657.1:c.254-1871G>T | ENSP00000507753.1:n.254-1871G>T | |
| ENST00000682721.1:c.*336G>T | ENSP00000507535.1:n.*336G>T | |
| ENST00000682843.1:c.*431G>T | ENSP00000508173.1:n.*431G>T | |
| ENST00000683003.1:c.413-1871G>T | ENSP00000507576.1:n.413-1871G>T | |
| ENST00000683133.1:c.717G>T | ENSP00000508108.1:n.717G>T | |
| ENST00000683228.1:n.564G>T | ||
| ENST00000683243.1:c.413-1871G>T | ENSP00000507042.1:n.413-1871G>T | |
| ENST00000683463.1:c.533G>T | ENSP00000507986.1:p.Arg178Leu | |
| ENST00000683548.1:n.564G>T | ||
| ENST00000683579.1:c.*431G>T | ENSP00000506867.1:n.*431G>T | |
| ENST00000683587.1:n.564G>T | ||
| ENST00000683681.1:c.533G>T | ENSP00000508110.1:p.Arg178Leu | |
| ENST00000683735.1:c.*431G>T | ENSP00000508336.1:n.*431G>T | |
| ENST00000683853.1:c.533G>T | ENSP00000506834.1:p.Arg178Leu | |
| ENST00000683860.1:c.533G>T | ENSP00000507179.1:p.Arg178Leu | |
| ENST00000683884.1:c.533G>T | ENSP00000507004.1:p.Arg178Leu | |
| ENST00000684041.1:c.533G>T | ENSP00000508382.1:p.Arg178Leu | |
| ENST00000684125.1:c.533G>T | ENSP00000507320.1:p.Arg178Leu | |
| ENST00000684203.1:n.2371G>T | ||
| ENST00000684231.1:c.413-1871G>T | ENSP00000507748.1:n.413-1871G>T | |
| ENST00000684263.1:c.533G>T | ENSP00000508369.1:p.Arg178Leu | |
| ENST00000684305.1:c.981G>T | ENSP00000506819.1:n.981G>T | |
| ENST00000684415.1:c.533G>T | ENSP00000507227.1:p.Arg178Leu | |
| ENST00000684520.1:c.533G>T | ENSP00000506826.1:p.Arg178Leu | |
| ENST00000684602.1:c.*237-1871G>T | ENSP00000507996.1:n.*237-1871G>T | |
| ENST00000684667.1:c.864G>T | ENSP00000507003.1:n.864G>T | |
| ENST00000268097.10:c.533G>T MANE Select | ENSP00000268097.6:p.Arg178Leu | |
| ENST00000268097.9:c.533G>T | ENSP00000268097.5:p.Arg178Leu | |
| ENST00000379915.4:c.412+2454G>T | ENSP00000478716.1:n.412+2454G>T | |
| ENST00000563762.5:c.504-1871G>T | ENSP00000456346.1:n.504-1871G>T | |
| ENST00000566304.5:c.566G>T | ENSP00000455114.1:p.Arg189Leu | |
| ENST00000566672.5:c.413-1871G>T | ENSP00000457037.1:n.413-1871G>T | |
| ENST00000567027.5:c.405G>T | ||
| ENST00000567159.5:c.533G>T | ENSP00000456489.1:p.Arg178Leu | |
| ENST00000567411.5:c.*54G>T | ENSP00000455545.1:n.*54G>T | |
| ENST00000568260.1:c.534G>T | ||
| ENST00000568777.5:n.5937G>T | ||
| ENST00000569410.5:c.533G>T | ENSP00000457125.1:p.Arg178Leu | |
| ENST00000569509.5:n.418-1871G>T | ||
| NM_000520.4:c.533G>T | NP_000511.2:p.Arg178Leu | |
| NM_000520.5:c.533G>T | NP_000511.2:p.Arg178Leu | |
| NM_001318825.1:c.566G>T | NP_001305754.1:p.Arg189Leu | |
| NR_134869.1:n.1034G>T | ||
| NM_000520.6:c.533G>T MANE Select | NP_000511.2:p.Arg178Leu | |
| NM_001318825.2:c.566G>T | NP_001305754.1:p.Arg189Leu | |
| NR_134869.2:n.575G>T | ||
| NR_134869.3:n.575G>T |