Linked Data
ClinVar Variation Id:
217711
dbSNP Id:
rs775256658
ExAC:
8:94793213 A / G
gnomAD v2:
8-94793213-A-G
gnomAD v4:
8-93780985-A-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780985A>G , CM000670.2:g.93780985A>G | GRCh38 |
| NC_000008.10:g.94793213A>G , CM000670.1:g.94793213A>G | GRCh37 |
| NC_000008.9:g.94862389A>G | NCBI36 |
| NG_009190.1:g.31142A>G , LRG_688:g.31142A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.978+3A>G | ENSP00000314488.4:n.978+3A>G | |
| ENST00000409623.8:c.978+3A>G | ENSP00000386966.4:n.978+3A>G | |
| ENST00000452276.6:c.978+3A>G | ENSP00000388671.2:n.978+3A>G | |
| ENST00000453906.6:c.407-5238A>G | ENSP00000403035.2:n.407-5238A>G | |
| ENST00000520680.2:c.978+3A>G | ENSP00000428785.2:n.978+3A>G | |
| ENST00000521065.2:c.*695+3A>G | ENSP00000427947.2:n.*695+3A>G | |
| ENST00000521517.6:c.978+3A>G | ENSP00000430740.2:n.978+3A>G | |
| ENST00000681998.1:c.799+238A>G | ENSP00000506773.1:n.799+238A>G | |
| ENST00000682036.1:c.407-5238A>G | ENSP00000508390.1:n.407-5238A>G | |
| ENST00000682577.1:c.908+3A>G | ENSP00000506963.1:n.908+3A>G | |
| ENST00000682624.1:c.*552+3A>G | ENSP00000508343.1:n.*552+3A>G | |
| ENST00000682700.1:c.978+3A>G | ENSP00000507627.1:n.978+3A>G | |
| ENST00000682744.1:n.516+3A>G | ||
| ENST00000682804.1:n.801+3A>G | ||
| ENST00000682837.1:c.624+238A>G | ENSP00000507920.1:n.624+238A>G | |
| ENST00000682935.1:n.2538+3A>G | ||
| ENST00000682984.1:c.639+3A>G | ENSP00000507209.1:n.639+3A>G | |
| ENST00000683078.1:c.733+3A>G | ENSP00000506796.1:n.733+3A>G | |
| ENST00000683223.1:c.710+238A>G | ENSP00000507685.1:n.710+238A>G | |
| ENST00000683238.1:n.2359+3A>G | ||
| ENST00000683249.1:n.2575+3A>G | ||
| ENST00000683336.1:c.799+238A>G | ENSP00000507695.1:n.799+238A>G | |
| ENST00000683362.1:c.639+3A>G | ENSP00000506985.1:n.639+3A>G | |
| ENST00000683850.1:n.901+3A>G | ||
| ENST00000683919.1:c.908+3A>G | ENSP00000507617.1:n.908+3A>G | |
| ENST00000683953.1:c.889+3A>G | ENSP00000508375.1:n.889+3A>G | |
| ENST00000684023.1:c.1112+3A>G | ENSP00000507461.1:n.1112+3A>G | |
| ENST00000684064.1:c.669+3A>G | ENSP00000508192.1:n.669+3A>G | |
| ENST00000684089.1:n.2528+3A>G | ||
| ENST00000684149.1:c.*314+3A>G | ENSP00000507943.1:n.*314+3A>G | |
| ENST00000684416.1:n.937+3A>G | ||
| ENST00000684540.1:c.908+3A>G | ENSP00000507987.1:n.908+3A>G | |
| ENST00000453321.8:c.978+3A>G MANE Select | ENSP00000389998.3:n.978+3A>G | |
| ENST00000323130.7:c.948+3A>G | ENSP00000314488.3:n.948+3A>G | |
| ENST00000409623.7:c.735+3A>G | ENSP00000386966.3:n.735+3A>G | |
| ENST00000425545.2:n.425+3A>G | ||
| ENST00000452276.5:c.669+3A>G | ENSP00000388671.1:n.669+3A>G | |
| ENST00000453321.7:c.978+3A>G | ENSP00000389998.3:n.978+3A>G | |
| ENST00000453906.5:c.407-5238A>G | ENSP00000403035.1:n.407-5238A>G | |
| ENST00000474944.5:n.427-5238A>G | ||
| NM_001142301.1:c.735+3A>G , LRG_688t2:c.735+3A>G | NP_001135773.1:n.735+3A>G | |
| NM_153704.5:c.978+3A>G , LRG_688t1:c.978+3A>G | NP_714915.3:n.978+3A>G | |
| NR_024522.1:n.1049+3A>G | ||
| XM_006716686.2:c.675+3A>G | XP_006716749.1:n.675+3A>G | |
| XM_006716687.2:c.378+3A>G | XP_006716750.1:n.378+3A>G | |
| XM_011517363.1:c.407-5238A>G | XP_011515665.1:n.407-5238A>G | |
| XR_428387.1:n.1036+3A>G | ||
| XR_928360.1:n.1036+3A>G | ||
| XR_928361.1:n.1036+3A>G | ||
| XR_928362.1:n.1036+3A>G | ||
| XM_006716686.4:c.675+3A>G | XP_006716749.1:n.675+3A>G | |
| XM_011517363.3:c.407-5238A>G | XP_011515665.1:n.407-5238A>G | |
| XM_024447326.1:c.324+3A>G | XP_024303094.1:n.324+3A>G | |
| XR_001745619.2:n.1019+3A>G | ||
| XR_428387.2:n.1019+3A>G | ||
| XR_928360.3:n.1019+3A>G | ||
| XR_928362.3:n.1019+3A>G | ||
| NM_153704.6:c.978+3A>G MANE Select | NP_714915.3:n.978+3A>G | |
| NR_024522.2:n.999+3A>G |