Linked Data
ClinVar Variation Id:
3890
dbSNP Id:
rs147324677
ExAC:
15:72638575 C / G
gnomAD v2:
15-72638575-C-G
gnomAD v3:
15-72346234-C-G
gnomAD v4:
15-72346234-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346234C>G , CM000677.2:g.72346234C>G | GRCh38 |
| NC_000015.9:g.72638575C>G , CM000677.1:g.72638575C>G | GRCh37 |
| NC_000015.8:g.70425629C>G | NCBI36 |
| NG_009017.1:g.34946G>C | |
| NG_009017.2:g.34946G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*81+1G>C | ENSP00000457521.2:n.*81+1G>C | |
| ENST00000682061.1:c.*1084G>C | ENSP00000508316.1:n.*1084G>C | |
| ENST00000682064.1:n.965G>C | ||
| ENST00000682177.1:c.1464+1G>C | ENSP00000507409.1:n.1464+1G>C | |
| ENST00000682235.1:n.761G>C | ||
| ENST00000682461.1:c.1527+1G>C | ENSP00000507308.1:n.1527+1G>C | |
| ENST00000682653.1:n.1742G>C | ||
| ENST00000682657.1:c.*575G>C | ENSP00000507753.1:n.*575G>C | |
| ENST00000682721.1:c.*1224+1G>C | ENSP00000507535.1:n.*1224+1G>C | |
| ENST00000682843.1:c.*1062+1G>C | ENSP00000508173.1:n.*1062+1G>C | |
| ENST00000683003.1:c.*575G>C | ENSP00000507576.1:n.*575G>C | |
| ENST00000683133.1:c.1605+1G>C | ENSP00000508108.1:n.1605+1G>C | |
| ENST00000683243.1:c.*574+1G>C | ENSP00000507042.1:n.*574+1G>C | |
| ENST00000683463.1:c.*227G>C | ENSP00000507986.1:n.*227G>C | |
| ENST00000683548.1:n.1196G>C | ||
| ENST00000683579.1:c.*1319+1G>C | ENSP00000506867.1:n.*1319+1G>C | |
| ENST00000683587.1:n.1269G>C | ||
| ENST00000683681.1:c.1421+1G>C | ENSP00000508110.1:n.1421+1G>C | |
| ENST00000683735.1:c.*1136G>C | ENSP00000508336.1:n.*1136G>C | |
| ENST00000683853.1:c.*226+1G>C | ENSP00000506834.1:n.*226+1G>C | |
| ENST00000683860.1:c.1421+1G>C | ENSP00000507179.1:n.1421+1G>C | |
| ENST00000683884.1:c.*65G>C | ENSP00000507004.1:n.*65G>C | |
| ENST00000684041.1:c.1422G>C | ENSP00000508382.1:p.Trp474Cys | |
| ENST00000684125.1:c.*81+1G>C | ENSP00000507320.1:n.*81+1G>C | |
| ENST00000684203.1:n.3187G>C | ||
| ENST00000684231.1:c.*831+1G>C | ENSP00000507748.1:n.*831+1G>C | |
| ENST00000684263.1:c.*362G>C | ENSP00000508369.1:n.*362G>C | |
| ENST00000684305.1:c.1869+1G>C | ENSP00000506819.1:n.1869+1G>C | |
| ENST00000684415.1:c.*289G>C | ENSP00000507227.1:n.*289G>C | |
| ENST00000684520.1:c.1422G>C | ENSP00000506826.1:p.Trp474Cys | |
| ENST00000684602.1:c.*1087+1G>C | ENSP00000507996.1:n.*1087+1G>C | |
| ENST00000684667.1:c.1752+1G>C | ENSP00000507003.1:n.1752+1G>C | |
| ENST00000268097.10:c.1421+1G>C MANE Select | ENSP00000268097.6:n.1421+1G>C | |
| ENST00000268097.9:c.1421+1G>C | ENSP00000268097.5:n.1421+1G>C | |
| ENST00000379915.4:c.503+1G>C | ENSP00000478716.1:n.503+1G>C | |
| ENST00000563762.5:c.917G>C | ENSP00000456346.1:n.917G>C | |
| ENST00000566304.5:c.1454+1G>C | ENSP00000455114.1:n.1454+1G>C | |
| ENST00000566672.5:c.*832G>C | ENSP00000457037.1:n.*832G>C | |
| ENST00000567027.5:c.1036+1G>C | ||
| ENST00000567159.5:c.1421+1G>C | ENSP00000456489.1:n.1421+1G>C | |
| ENST00000567411.5:c.*942+1G>C | ENSP00000455545.1:n.*942+1G>C | |
| ENST00000568777.5:n.6641+1G>C | ||
| NM_000520.4:c.1421+1G>C | NP_000511.2:n.1421+1G>C | |
| NM_000520.5:c.1421+1G>C | NP_000511.2:n.1421+1G>C | |
| NM_001318825.1:c.1454+1G>C | NP_001305754.1:n.1454+1G>C | |
| NR_134869.1:n.1665+1G>C | ||
| NM_000520.6:c.1421+1G>C MANE Select | NP_000511.2:n.1421+1G>C | |
| NM_001318825.2:c.1454+1G>C | NP_001305754.1:n.1454+1G>C | |
| NR_134869.2:n.1206+1G>C | ||
| NR_134869.3:n.1206+1G>C |