Linked Data
ClinVar Variation Id:
217707
dbSNP Id:
rs863225224
gnomAD v4:
8-93793299-A-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93793299A>G , CM000670.2:g.93793299A>G | GRCh38 |
| NC_000008.10:g.94805527A>G , CM000670.1:g.94805527A>G | GRCh37 |
| NC_000008.9:g.94874703A>G | NCBI36 |
| NG_009190.1:g.43456A>G , LRG_688:g.43456A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1674+3A>G | ENSP00000314488.4:n.1674+3A>G | |
| ENST00000409623.8:c.1629+3A>G | ENSP00000386966.4:n.1629+3A>G | |
| ENST00000452276.6:c.1674+3A>G | ENSP00000388671.2:n.1674+3A>G | |
| ENST00000453906.6:c.792+3A>G | ENSP00000403035.2:n.792+3A>G | |
| ENST00000520680.2:c.1797+3A>G | ENSP00000428785.2:n.1797+3A>G | |
| ENST00000521517.6:c.1674+3A>G | ENSP00000430740.2:n.1674+3A>G | |
| ENST00000681998.1:c.1495+3A>G | ENSP00000506773.1:n.1495+3A>G | |
| ENST00000682036.1:c.915+3A>G | ENSP00000508390.1:n.915+3A>G | |
| ENST00000682577.1:c.1447+3A>G | ENSP00000506963.1:n.1447+3A>G | |
| ENST00000682624.1:c.*1248+3A>G | ENSP00000508343.1:n.*1248+3A>G | |
| ENST00000682700.1:c.1674+3A>G | ENSP00000507627.1:n.1674+3A>G | |
| ENST00000682744.1:n.1212+3A>G | ||
| ENST00000682804.1:n.1497+3A>G | ||
| ENST00000682837.1:c.1163+3A>G | ENSP00000507920.1:n.1163+3A>G | |
| ENST00000682935.1:n.3724+3A>G | ||
| ENST00000682984.1:c.1335+3A>G | ENSP00000507209.1:n.1335+3A>G | |
| ENST00000683078.1:c.1429+3A>G | ENSP00000506796.1:n.1429+3A>G | |
| ENST00000683223.1:c.1406+3A>G | ENSP00000507685.1:n.1406+3A>G | |
| ENST00000683238.1:n.2898+3A>G | ||
| ENST00000683249.1:n.3271+3A>G | ||
| ENST00000683336.1:c.1495+3A>G | ENSP00000507695.1:n.1495+3A>G | |
| ENST00000683362.1:c.1335+3A>G | ENSP00000506985.1:n.1335+3A>G | |
| ENST00000683850.1:n.1597+3A>G | ||
| ENST00000683919.1:c.1604+3A>G | ENSP00000507617.1:n.1604+3A>G | |
| ENST00000683953.1:c.1585+3A>G | ENSP00000508375.1:n.1585+3A>G | |
| ENST00000684023.1:c.1651+3A>G | ENSP00000507461.1:n.1651+3A>G | |
| ENST00000684064.1:c.1365+3A>G | ENSP00000508192.1:n.1365+3A>G | |
| ENST00000684089.1:n.3224+3A>G | ||
| ENST00000684149.1:c.*853+3A>G | ENSP00000507943.1:n.*853+3A>G | |
| ENST00000684416.1:n.1633+3A>G | ||
| ENST00000684540.1:c.1604+3A>G | ENSP00000507987.1:n.1604+3A>G | |
| ENST00000453321.8:c.1674+3A>G MANE Select | ENSP00000389998.3:n.1674+3A>G | |
| ENST00000323130.7:c.1644+3A>G | ENSP00000314488.3:n.1644+3A>G | |
| ENST00000409623.7:c.1431+3A>G | ENSP00000386966.3:n.1431+3A>G | |
| ENST00000453321.7:c.1674+3A>G | ENSP00000389998.3:n.1674+3A>G | |
| ENST00000474944.5:n.812+3A>G | ||
| ENST00000520680.1:c.619+3A>G | ||
| ENST00000523230.5:n.209+3A>G | ||
| NM_001142301.1:c.1431+3A>G , LRG_688t2:c.1431+3A>G | NP_001135773.1:n.1431+3A>G | |
| NM_153704.5:c.1674+3A>G , LRG_688t1:c.1674+3A>G | NP_714915.3:n.1674+3A>G | |
| NR_024522.1:n.1745+3A>G | ||
| XM_006716686.2:c.1371+3A>G | XP_006716749.1:n.1371+3A>G | |
| XM_006716687.2:c.1074+3A>G | XP_006716750.1:n.1074+3A>G | |
| XM_011517363.1:c.792+3A>G | XP_011515665.1:n.792+3A>G | |
| XR_428387.1:n.1732+3A>G | ||
| XR_928360.1:n.1732+3A>G | ||
| XR_928361.1:n.1732+3A>G | ||
| XR_928362.1:n.1732+3A>G | ||
| XM_006716686.4:c.1371+3A>G | XP_006716749.1:n.1371+3A>G | |
| XM_011517363.3:c.792+3A>G | XP_011515665.1:n.792+3A>G | |
| XM_024447326.1:c.1020+3A>G | XP_024303094.1:n.1020+3A>G | |
| XR_001745619.2:n.1715+3A>G | ||
| XR_428387.2:n.1715+3A>G | ||
| XR_928360.3:n.1715+3A>G | ||
| XR_928362.3:n.1715+3A>G | ||
| NM_153704.6:c.1674+3A>G MANE Select | NP_714915.3:n.1674+3A>G | |
| NR_024522.2:n.1695+3A>G |