Linked Data
ClinVar Variation Id:
3892
dbSNP Id:
rs121907952
gnomAD v2:
15-72637869-C-T
gnomAD v3:
15-72345528-C-T
gnomAD v4:
15-72345528-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345528C>T , CM000677.2:g.72345528C>T | GRCh38 |
| NC_000015.9:g.72637869C>T , CM000677.1:g.72637869C>T | GRCh37 |
| NC_000015.8:g.70424923C>T | NCBI36 |
| NG_009017.1:g.35652G>A | |
| NG_009017.2:g.35652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*104G>A | ENSP00000457521.2:n.*104G>A | |
| ENST00000682061.1:c.*1790G>A | ENSP00000508316.1:n.*1790G>A | |
| ENST00000682064.1:n.1671G>A | ||
| ENST00000682177.1:c.1487G>A | ENSP00000507409.1:n.1487G>A | |
| ENST00000682235.1:n.1467G>A | ||
| ENST00000682461.1:c.1550G>A | ENSP00000507308.1:n.1550G>A | |
| ENST00000682653.1:n.2448G>A | ||
| ENST00000682657.1:c.*1281G>A | ENSP00000507753.1:n.*1281G>A | |
| ENST00000682721.1:c.*1247G>A | ENSP00000507535.1:n.*1247G>A | |
| ENST00000682843.1:c.*1085G>A | ENSP00000508173.1:n.*1085G>A | |
| ENST00000683003.1:c.*1281G>A | ENSP00000507576.1:n.*1281G>A | |
| ENST00000683133.1:c.1628G>A | ENSP00000508108.1:n.1628G>A | |
| ENST00000683243.1:c.*597G>A | ENSP00000507042.1:n.*597G>A | |
| ENST00000683463.1:c.*933G>A | ENSP00000507986.1:n.*933G>A | |
| ENST00000683548.1:n.1902G>A | ||
| ENST00000683579.1:c.*1342G>A | ENSP00000506867.1:n.*1342G>A | |
| ENST00000683587.1:n.1975G>A | ||
| ENST00000683681.1:c.*122G>A | ENSP00000508110.1:n.*122G>A | |
| ENST00000683735.1:c.*1842G>A | ENSP00000508336.1:n.*1842G>A | |
| ENST00000683853.1:c.*249G>A | ENSP00000506834.1:n.*249G>A | |
| ENST00000683860.1:c.*564G>A | ENSP00000507179.1:n.*564G>A | |
| ENST00000683884.1:c.*771G>A | ENSP00000507004.1:n.*771G>A | |
| ENST00000684041.1:c.*577G>A | ENSP00000508382.1:n.*577G>A | |
| ENST00000684125.1:c.*104G>A | ENSP00000507320.1:n.*104G>A | |
| ENST00000684203.1:n.3893G>A | ||
| ENST00000684231.1:c.*854G>A | ENSP00000507748.1:n.*854G>A | |
| ENST00000684263.1:c.*1068G>A | ENSP00000508369.1:n.*1068G>A | |
| ENST00000684305.1:c.1892G>A | ENSP00000506819.1:n.1892G>A | |
| ENST00000684415.1:c.*995G>A | ENSP00000507227.1:n.*995G>A | |
| ENST00000684520.1:c.*703G>A | ENSP00000506826.1:n.*703G>A | |
| ENST00000684602.1:c.*1110G>A | ENSP00000507996.1:n.*1110G>A | |
| ENST00000684667.1:c.1775G>A | ENSP00000507003.1:n.1775G>A | |
| ENST00000268097.10:c.1444G>A MANE Select | ENSP00000268097.6:p.Glu482Lys | |
| ENST00000268097.9:c.1444G>A | ENSP00000268097.5:p.Glu482Lys | |
| ENST00000379915.4:c.526G>A | ENSP00000478716.1:p.Glu176Lys | |
| ENST00000564677.5:n.236G>A | ||
| ENST00000565873.1:n.355G>A | ||
| ENST00000566304.5:c.1477G>A | ENSP00000455114.1:p.Glu493Lys | |
| ENST00000567027.5:c.1059G>A | ||
| ENST00000567159.5:c.1444G>A | ENSP00000456489.1:p.Glu482Lys | |
| ENST00000567411.5:c.*965G>A | ENSP00000455545.1:n.*965G>A | |
| ENST00000568777.5:n.6664G>A | ||
| ENST00000569116.1:n.151G>A | ||
| NM_000520.4:c.1444G>A | NP_000511.2:p.Glu482Lys | |
| NM_000520.5:c.1444G>A | NP_000511.2:p.Glu482Lys | |
| NM_001318825.1:c.1477G>A | NP_001305754.1:p.Glu493Lys | |
| NR_134869.1:n.1688G>A | ||
| NM_000520.6:c.1444G>A MANE Select | NP_000511.2:p.Glu482Lys | |
| NM_001318825.2:c.1477G>A | NP_001305754.1:p.Glu493Lys | |
| NR_134869.2:n.1229G>A | ||
| NR_134869.3:n.1229G>A |