Linked Data
ClinVar Variation Id:
375356
dbSNP Id:
rs1057519462
gnomAD v3:
15-72350535-G-A
gnomAD v4:
15-72350535-G-A
PubMed:
PMID:23852624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72350535G>A , CM000677.2:g.72350535G>A | GRCh38 |
| NC_000015.9:g.72642876G>A , CM000677.1:g.72642876G>A | GRCh37 |
| NC_000015.8:g.70429930G>A | NCBI36 |
| NG_009017.1:g.30645C>T | |
| NG_009017.2:g.30645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563908.2:n.3134C>T | ||
| ENST00000567027.6:c.788C>T | ENSP00000457521.2:p.Thr263Ile | |
| ENST00000682061.1:c.*450C>T | ENSP00000508316.1:n.*450C>T | |
| ENST00000682177.1:c.831C>T | ENSP00000507409.1:n.831C>T | |
| ENST00000682461.1:c.894C>T | ENSP00000507308.1:n.894C>T | |
| ENST00000682653.1:n.819C>T | ||
| ENST00000682657.1:c.*198C>T | ENSP00000507753.1:n.*198C>T | |
| ENST00000682721.1:c.*591C>T | ENSP00000507535.1:n.*591C>T | |
| ENST00000682843.1:c.*686C>T | ENSP00000508173.1:n.*686C>T | |
| ENST00000683003.1:c.*198C>T | ENSP00000507576.1:n.*198C>T | |
| ENST00000683133.1:c.972C>T | ENSP00000508108.1:n.972C>T | |
| ENST00000683228.1:n.819C>T | ||
| ENST00000683243.1:c.*198C>T | ENSP00000507042.1:n.*198C>T | |
| ENST00000683463.1:c.788C>T | ENSP00000507986.1:p.Thr263Ile | |
| ENST00000683548.1:n.819C>T | ||
| ENST00000683579.1:c.*686C>T | ENSP00000506867.1:n.*686C>T | |
| ENST00000683587.1:n.819C>T | ||
| ENST00000683681.1:c.788C>T | ENSP00000508110.1:p.Thr263Ile | |
| ENST00000683735.1:c.*686C>T | ENSP00000508336.1:n.*686C>T | |
| ENST00000683742.1:n.619C>T | ||
| ENST00000683853.1:c.788C>T | ENSP00000506834.1:p.Thr263Ile | |
| ENST00000683860.1:c.788C>T | ENSP00000507179.1:p.Thr263Ile | |
| ENST00000683884.1:c.788C>T | ENSP00000507004.1:p.Thr263Ile | |
| ENST00000684041.1:c.788C>T | ENSP00000508382.1:p.Thr263Ile | |
| ENST00000684125.1:c.788C>T | ENSP00000507320.1:p.Thr263Ile | |
| ENST00000684203.1:n.2626C>T | ||
| ENST00000684231.1:c.*198C>T | ENSP00000507748.1:n.*198C>T | |
| ENST00000684263.1:c.788C>T | ENSP00000508369.1:p.Thr263Ile | |
| ENST00000684305.1:c.1236C>T | ENSP00000506819.1:n.1236C>T | |
| ENST00000684415.1:c.788C>T | ENSP00000507227.1:p.Thr263Ile | |
| ENST00000684520.1:c.788C>T | ENSP00000506826.1:p.Thr263Ile | |
| ENST00000684602.1:c.*454C>T | ENSP00000507996.1:n.*454C>T | |
| ENST00000684667.1:c.1119C>T | ENSP00000507003.1:n.1119C>T | |
| ENST00000268097.10:c.788C>T MANE Select | ENSP00000268097.6:p.Thr263Ile | |
| ENST00000268097.9:c.788C>T | ENSP00000268097.5:p.Thr263Ile | |
| ENST00000379915.4:c.413-4210C>T | ENSP00000478716.1:n.413-4210C>T | |
| ENST00000563762.5:c.721C>T | ENSP00000456346.1:n.721C>T | |
| ENST00000566304.5:c.821C>T | ENSP00000455114.1:p.Thr274Ile | |
| ENST00000566672.5:c.*198C>T | ENSP00000457037.1:n.*198C>T | |
| ENST00000567027.5:c.660C>T | ||
| ENST00000567159.5:c.788C>T | ENSP00000456489.1:p.Thr263Ile | |
| ENST00000567411.5:c.*309C>T | ENSP00000455545.1:n.*309C>T | |
| ENST00000568777.5:n.6192C>T | ||
| ENST00000569410.5:c.788C>T | ENSP00000457125.1:p.Thr263Ile | |
| NM_000520.4:c.788C>T | NP_000511.2:p.Thr263Ile | |
| NM_000520.5:c.788C>T | NP_000511.2:p.Thr263Ile | |
| NM_001318825.1:c.821C>T | NP_001305754.1:p.Thr274Ile | |
| NR_134869.1:n.1289C>T | ||
| NM_000520.6:c.788C>T MANE Select | NP_000511.2:p.Thr263Ile | |
| NM_001318825.2:c.821C>T | NP_001305754.1:p.Thr274Ile | |
| NR_134869.2:n.830C>T | ||
| NR_134869.3:n.830C>T |