Linked Data
ClinVar Variation Id:
1373
dbSNP Id:
rs199821258
ExAC:
8:94777876 T / G
gnomAD v2:
8-94777876-T-G
gnomAD v3:
8-93765648-T-G
gnomAD v4:
8-93765648-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93765648T>G , CM000670.2:g.93765648T>G | GRCh38 |
| NC_000008.10:g.94777876T>G , CM000670.1:g.94777876T>G | GRCh37 |
| NC_000008.9:g.94847052T>G | NCBI36 |
| NG_009190.1:g.15805T>G , LRG_688:g.15805T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.651+2T>G | ENSP00000314488.4:n.651+2T>G | |
| ENST00000409623.8:c.651+2T>G | ENSP00000386966.4:n.651+2T>G | |
| ENST00000452276.6:c.651+2T>G | ENSP00000388671.2:n.651+2T>G | |
| ENST00000453906.6:c.406+7072T>G | ENSP00000403035.2:n.406+7072T>G | |
| ENST00000520680.2:c.651+2T>G | ENSP00000428785.2:n.651+2T>G | |
| ENST00000521065.2:c.*368+2T>G | ENSP00000427947.2:n.*368+2T>G | |
| ENST00000521517.6:c.651+2T>G | ENSP00000430740.2:n.651+2T>G | |
| ENST00000681998.1:c.581+2T>G | ENSP00000506773.1:n.581+2T>G | |
| ENST00000682036.1:c.406+7072T>G | ENSP00000508390.1:n.406+7072T>G | |
| ENST00000682577.1:c.581+2T>G | ENSP00000506963.1:n.581+2T>G | |
| ENST00000682624.1:c.*225+2T>G | ENSP00000508343.1:n.*225+2T>G | |
| ENST00000682700.1:c.651+2T>G | ENSP00000507627.1:n.651+2T>G | |
| ENST00000682804.1:n.474+2T>G | ||
| ENST00000682837.1:c.407-6941T>G | ENSP00000507920.1:n.407-6941T>G | |
| ENST00000682935.1:n.2211+2T>G | ||
| ENST00000682984.1:c.313-6941T>G | ENSP00000507209.1:n.313-6941T>G | |
| ENST00000683078.1:c.407-6941T>G | ENSP00000506796.1:n.407-6941T>G | |
| ENST00000683223.1:c.492+2T>G | ENSP00000507685.1:n.492+2T>G | |
| ENST00000683238.1:n.2032+2T>G | ||
| ENST00000683249.1:n.2232+2T>G | ||
| ENST00000683336.1:c.581+2T>G | ENSP00000507695.1:n.581+2T>G | |
| ENST00000683362.1:c.313-6941T>G | ENSP00000506985.1:n.313-6941T>G | |
| ENST00000683850.1:n.574+2T>G | ||
| ENST00000683919.1:c.581+2T>G | ENSP00000507617.1:n.581+2T>G | |
| ENST00000683953.1:c.562+2T>G | ENSP00000508375.1:n.562+2T>G | |
| ENST00000684023.1:c.785+2T>G | ENSP00000507461.1:n.785+2T>G | |
| ENST00000684064.1:c.342+2T>G | ENSP00000508192.1:n.342+2T>G | |
| ENST00000684089.1:n.2201+2T>G | ||
| ENST00000684149.1:c.581+2T>G | ENSP00000507943.1:n.581+2T>G | |
| ENST00000684416.1:n.610+2T>G | ||
| ENST00000684540.1:c.581+2T>G | ENSP00000507987.1:n.581+2T>G | |
| ENST00000453321.8:c.651+2T>G MANE Select | ENSP00000389998.3:n.651+2T>G | |
| ENST00000323130.7:c.621+2T>G | ENSP00000314488.3:n.621+2T>G | |
| ENST00000409623.7:c.408+2T>G | ENSP00000386966.3:n.408+2T>G | |
| ENST00000452276.5:c.342+2T>G | ENSP00000388671.1:n.342+2T>G | |
| ENST00000453321.7:c.651+2T>G | ENSP00000389998.3:n.651+2T>G | |
| ENST00000453906.5:c.406+7072T>G | ENSP00000403035.1:n.406+7072T>G | |
| ENST00000474944.5:n.426+7072T>G | ||
| ENST00000496213.5:n.116+2T>G | ||
| NM_001142301.1:c.408+2T>G , LRG_688t2:c.408+2T>G | NP_001135773.1:n.408+2T>G | |
| NM_153704.5:c.651+2T>G , LRG_688t1:c.651+2T>G | NP_714915.3:n.651+2T>G | |
| NR_024522.1:n.722+2T>G | ||
| XM_006716686.2:c.348+2T>G | XP_006716749.1:n.348+2T>G | |
| XM_011517363.1:c.406+7072T>G | XP_011515665.1:n.406+7072T>G | |
| XR_428387.1:n.709+2T>G | ||
| XR_928360.1:n.709+2T>G | ||
| XR_928361.1:n.709+2T>G | ||
| XR_928362.1:n.709+2T>G | ||
| XM_006716686.4:c.348+2T>G | XP_006716749.1:n.348+2T>G | |
| XM_011517363.3:c.406+7072T>G | XP_011515665.1:n.406+7072T>G | |
| XM_024447326.1:c.-3-6941T>G | XP_024303094.1:n.-3-6941T>G | |
| XR_001745619.2:n.692+2T>G | ||
| XR_428387.2:n.692+2T>G | ||
| XR_928360.3:n.692+2T>G | ||
| XR_928362.3:n.692+2T>G | ||
| NM_153704.6:c.651+2T>G MANE Select | NP_714915.3:n.651+2T>G | |
| NR_024522.2:n.672+2T>G |