Linked Data
ClinVar Variation Id:
3930
ClinVar RCV Id:
RCV000004136
dbSNP Id:
rs121907975
PubMed:
PMID:8490625
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72355591A>C , CM000677.2:g.72355591A>C | GRCh38 |
| NC_000015.9:g.72647932A>C , CM000677.1:g.72647932A>C | GRCh37 |
| NC_000015.8:g.70434986A>C | NCBI36 |
| NG_009017.1:g.25589T>G | |
| NG_009017.2:g.25589T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563908.2:n.393T>G | ||
| ENST00000567027.6:c.380T>G | ENSP00000457521.2:p.Leu127Arg | |
| ENST00000568260.2:c.447T>G | ENSP00000458128.2:n.447T>G | |
| ENST00000682061.1:c.*42T>G | ENSP00000508316.1:n.*42T>G | |
| ENST00000682177.1:c.380T>G | ENSP00000507409.1:p.Leu127Arg | |
| ENST00000682461.1:c.644T>G | ENSP00000507308.1:n.644T>G | |
| ENST00000682653.1:n.411T>G | ||
| ENST00000682657.1:c.254-4357T>G | ENSP00000507753.1:n.254-4357T>G | |
| ENST00000682721.1:c.*183T>G | ENSP00000507535.1:n.*183T>G | |
| ENST00000682843.1:c.*278T>G | ENSP00000508173.1:n.*278T>G | |
| ENST00000683003.1:c.380T>G | ENSP00000507576.1:p.Leu127Arg | |
| ENST00000683133.1:c.564T>G | ENSP00000508108.1:n.564T>G | |
| ENST00000683228.1:n.411T>G | ||
| ENST00000683243.1:c.380T>G | ENSP00000507042.1:p.Leu127Arg | |
| ENST00000683463.1:c.380T>G | ENSP00000507986.1:p.Leu127Arg | |
| ENST00000683548.1:n.411T>G | ||
| ENST00000683579.1:c.*278T>G | ENSP00000506867.1:n.*278T>G | |
| ENST00000683587.1:n.411T>G | ||
| ENST00000683681.1:c.380T>G | ENSP00000508110.1:p.Leu127Arg | |
| ENST00000683735.1:c.*278T>G | ENSP00000508336.1:n.*278T>G | |
| ENST00000683853.1:c.380T>G | ENSP00000506834.1:p.Leu127Arg | |
| ENST00000683860.1:c.380T>G | ENSP00000507179.1:p.Leu127Arg | |
| ENST00000683884.1:c.380T>G | ENSP00000507004.1:p.Leu127Arg | |
| ENST00000684041.1:c.380T>G | ENSP00000508382.1:p.Leu127Arg | |
| ENST00000684125.1:c.380T>G | ENSP00000507320.1:p.Leu127Arg | |
| ENST00000684203.1:n.397T>G | ||
| ENST00000684231.1:c.380T>G | ENSP00000507748.1:p.Leu127Arg | |
| ENST00000684263.1:c.380T>G | ENSP00000508369.1:p.Leu127Arg | |
| ENST00000684305.1:c.828T>G | ENSP00000506819.1:n.828T>G | |
| ENST00000684415.1:c.380T>G | ENSP00000507227.1:p.Leu127Arg | |
| ENST00000684520.1:c.380T>G | ENSP00000506826.1:p.Leu127Arg | |
| ENST00000684602.1:c.*204T>G | ENSP00000507996.1:n.*204T>G | |
| ENST00000684667.1:c.711T>G | ENSP00000507003.1:n.711T>G | |
| ENST00000268097.10:c.380T>G MANE Select | ENSP00000268097.6:p.Leu127Arg | |
| ENST00000268097.9:c.380T>G | ENSP00000268097.5:p.Leu127Arg | |
| ENST00000379915.4:c.380T>G | ENSP00000478716.1:p.Leu127Arg | |
| ENST00000563762.5:c.471T>G | ENSP00000456346.1:n.471T>G | |
| ENST00000563908.1:n.377T>G | ||
| ENST00000566304.5:c.413T>G | ENSP00000455114.1:p.Leu138Arg | |
| ENST00000566672.5:c.380T>G | ENSP00000457037.1:p.Leu127Arg | |
| ENST00000567027.5:c.252T>G | ||
| ENST00000567159.5:c.380T>G | ENSP00000456489.1:p.Leu127Arg | |
| ENST00000567411.5:c.380T>G | ENSP00000455545.1:p.Leu127Arg | |
| ENST00000568260.1:c.428T>G | ||
| ENST00000568777.5:n.3963T>G | ||
| ENST00000569410.5:c.380T>G | ENSP00000457125.1:p.Leu127Arg | |
| ENST00000569509.5:n.385T>G | ||
| NM_000520.4:c.380T>G | NP_000511.2:p.Leu127Arg | |
| NM_000520.5:c.380T>G | NP_000511.2:p.Leu127Arg | |
| NM_001318825.1:c.413T>G | NP_001305754.1:p.Leu138Arg | |
| NR_134869.1:n.881T>G | ||
| NM_000520.6:c.380T>G MANE Select | NP_000511.2:p.Leu127Arg | |
| NM_001318825.2:c.413T>G | NP_001305754.1:p.Leu138Arg | |
| NR_134869.2:n.422T>G | ||
| NR_134869.3:n.422T>G |