Linked Data
ClinVar Variation Id:
194339
dbSNP Id:
rs199914308
ExAC:
15:72636487 A / G
gnomAD v2:
15-72636487-A-G
gnomAD v3:
15-72344146-A-G
gnomAD v4:
15-72344146-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72344146A>G , CM000677.2:g.72344146A>G | GRCh38 |
| NC_000015.9:g.72636487A>G , CM000677.1:g.72636487A>G | GRCh37 |
| NC_000015.8:g.70423541A>G | NCBI36 |
| NG_009017.1:g.37034T>C | |
| NG_009017.2:g.37034T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682064.1:n.1754-6T>C | ||
| ENST00000682235.1:n.1550-6T>C | ||
| ENST00000682461.1:c.1633-6T>C | ENSP00000507308.1:n.1633-6T>C | |
| ENST00000682653.1:n.3830T>C | ||
| ENST00000682721.1:c.*1330-6T>C | ENSP00000507535.1:n.*1330-6T>C | |
| ENST00000682843.1:c.*1168-6T>C | ENSP00000508173.1:n.*1168-6T>C | |
| ENST00000683133.1:c.1711-6T>C | ENSP00000508108.1:n.1711-6T>C | |
| ENST00000683243.1:c.*680-6T>C | ENSP00000507042.1:n.*680-6T>C | |
| ENST00000683463.1:c.*1016-6T>C | ENSP00000507986.1:n.*1016-6T>C | |
| ENST00000683548.1:n.1985-6T>C | ||
| ENST00000683579.1:c.*1425-6T>C | ENSP00000506867.1:n.*1425-6T>C | |
| ENST00000683587.1:n.2058-6T>C | ||
| ENST00000683681.1:c.*205-6T>C | ENSP00000508110.1:n.*205-6T>C | |
| ENST00000683735.1:c.*1925-6T>C | ENSP00000508336.1:n.*1925-6T>C | |
| ENST00000683853.1:c.*1631T>C | ENSP00000506834.1:n.*1631T>C | |
| ENST00000683860.1:c.*647-6T>C | ENSP00000507179.1:n.*647-6T>C | |
| ENST00000684125.1:c.*187-6T>C | ENSP00000507320.1:n.*187-6T>C | |
| ENST00000684203.1:n.3976-6T>C | ||
| ENST00000684231.1:c.*937-6T>C | ENSP00000507748.1:n.*937-6T>C | |
| ENST00000684263.1:c.*1151-6T>C | ENSP00000508369.1:n.*1151-6T>C | |
| ENST00000684305.1:c.1975-6T>C | ENSP00000506819.1:n.1975-6T>C | |
| ENST00000684602.1:c.*1193-6T>C | ENSP00000507996.1:n.*1193-6T>C | |
| ENST00000684667.1:c.1858-6T>C | ENSP00000507003.1:n.1858-6T>C | |
| ENST00000268097.10:c.1527-6T>C MANE Select | ENSP00000268097.6:n.1527-6T>C | |
| ENST00000268097.9:c.1527-6T>C | ENSP00000268097.5:n.1527-6T>C | |
| ENST00000379915.4:c.608+1300T>C | ENSP00000478716.1:n.608+1300T>C | |
| ENST00000564677.5:n.319-6T>C | ||
| ENST00000565873.1:n.438-6T>C | ||
| ENST00000566304.5:c.1560-6T>C | ENSP00000455114.1:n.1560-6T>C | |
| ENST00000567411.5:c.*1048-6T>C | ENSP00000455545.1:n.*1048-6T>C | |
| NM_000520.4:c.1527-6T>C | NP_000511.2:n.1527-6T>C | |
| NM_000520.5:c.1527-6T>C | NP_000511.2:n.1527-6T>C | |
| NM_001318825.1:c.1560-6T>C | NP_001305754.1:n.1560-6T>C | |
| NM_000520.6:c.1527-6T>C MANE Select | NP_000511.2:n.1527-6T>C | |
| NM_001318825.2:c.1560-6T>C | NP_001305754.1:n.1560-6T>C |