Linked Data
ClinVar Variation Id:
193945
dbSNP Id:
rs140191346
ExAC:
8:94794635 A / G
gnomAD v2:
8-94794635-A-G
gnomAD v3:
8-93782407-A-G
gnomAD v4:
8-93782407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93782407A>G , CM000670.2:g.93782407A>G | GRCh38 |
| NC_000008.10:g.94794635A>G , CM000670.1:g.94794635A>G | GRCh37 |
| NC_000008.9:g.94863811A>G | NCBI36 |
| NG_009190.1:g.32564A>G , LRG_688:g.32564A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1078A>G | ENSP00000314488.4:p.Thr360Ala | |
| ENST00000409623.8:c.1078A>G | ENSP00000386966.4:p.Thr360Ala | |
| ENST00000452276.6:c.1078A>G | ENSP00000388671.2:p.Thr360Ala | |
| ENST00000453906.6:c.407-3816A>G | ENSP00000403035.2:n.407-3816A>G | |
| ENST00000520680.2:c.1078A>G | ENSP00000428785.2:p.Thr360Ala | |
| ENST00000521065.2:c.*1226A>G | ENSP00000427947.2:n.*1226A>G | |
| ENST00000521517.6:c.1078A>G | ENSP00000430740.2:p.Thr360Ala | |
| ENST00000681998.1:c.899A>G | ENSP00000506773.1:n.899A>G | |
| ENST00000682036.1:c.407-3816A>G | ENSP00000508390.1:n.407-3816A>G | |
| ENST00000682577.1:c.1008A>G | ENSP00000506963.1:n.1008A>G | |
| ENST00000682624.1:c.*652A>G | ENSP00000508343.1:n.*652A>G | |
| ENST00000682700.1:c.1078A>G | ENSP00000507627.1:p.Thr360Ala | |
| ENST00000682744.1:n.616A>G | ||
| ENST00000682804.1:n.901A>G | ||
| ENST00000682837.1:c.724A>G | ENSP00000507920.1:n.724A>G | |
| ENST00000682935.1:n.2638A>G | ||
| ENST00000682984.1:c.739A>G | ENSP00000507209.1:p.Thr247Ala | |
| ENST00000683078.1:c.833A>G | ENSP00000506796.1:n.833A>G | |
| ENST00000683223.1:c.810A>G | ENSP00000507685.1:n.810A>G | |
| ENST00000683238.1:n.2459A>G | ||
| ENST00000683249.1:n.2675A>G | ||
| ENST00000683336.1:c.899A>G | ENSP00000507695.1:n.899A>G | |
| ENST00000683362.1:c.739A>G | ENSP00000506985.1:p.Thr247Ala | |
| ENST00000683850.1:n.1001A>G | ||
| ENST00000683919.1:c.1008A>G | ENSP00000507617.1:n.1008A>G | |
| ENST00000683953.1:c.989A>G | ENSP00000508375.1:n.989A>G | |
| ENST00000684023.1:c.1212A>G | ENSP00000507461.1:n.1212A>G | |
| ENST00000684064.1:c.769A>G | ENSP00000508192.1:p.Thr257Ala | |
| ENST00000684089.1:n.2628A>G | ||
| ENST00000684149.1:c.*414A>G | ENSP00000507943.1:n.*414A>G | |
| ENST00000684416.1:n.1037A>G | ||
| ENST00000684540.1:c.1008A>G | ENSP00000507987.1:n.1008A>G | |
| ENST00000453321.8:c.1078A>G MANE Select | ENSP00000389998.3:p.Thr360Ala | |
| ENST00000323130.7:c.1048A>G | ENSP00000314488.3:p.Thr350Ala | |
| ENST00000409623.7:c.835A>G | ENSP00000386966.3:p.Thr279Ala | |
| ENST00000425545.2:n.525A>G | ||
| ENST00000452276.5:c.769A>G | ENSP00000388671.1:p.Thr257Ala | |
| ENST00000453321.7:c.1078A>G | ENSP00000389998.3:p.Thr360Ala | |
| ENST00000453906.5:c.407-3816A>G | ENSP00000403035.1:n.407-3816A>G | |
| ENST00000474944.5:n.427-3816A>G | ||
| NM_001142301.1:c.835A>G , LRG_688t2:c.835A>G | NP_001135773.1:p.Thr279Ala | |
| NM_153704.5:c.1078A>G , LRG_688t1:c.1078A>G | NP_714915.3:p.Thr360Ala | |
| NR_024522.1:n.1149A>G | ||
| XM_006716686.2:c.775A>G | XP_006716749.1:p.Thr259Ala | |
| XM_006716687.2:c.478A>G | XP_006716750.1:p.Thr160Ala | |
| XM_011517363.1:c.407-3816A>G | XP_011515665.1:n.407-3816A>G | |
| XR_428387.1:n.1136A>G | ||
| XR_928360.1:n.1136A>G | ||
| XR_928361.1:n.1136A>G | ||
| XR_928362.1:n.1136A>G | ||
| XM_006716686.4:c.775A>G | XP_006716749.1:p.Thr259Ala | |
| XM_011517363.3:c.407-3816A>G | XP_011515665.1:n.407-3816A>G | |
| XM_024447326.1:c.424A>G | XP_024303094.1:p.Thr142Ala | |
| XR_001745619.2:n.1119A>G | ||
| XR_428387.2:n.1119A>G | ||
| XR_928360.3:n.1119A>G | ||
| XR_928362.3:n.1119A>G | ||
| NM_153704.6:c.1078A>G MANE Select | NP_714915.3:p.Thr360Ala | |
| NR_024522.2:n.1099A>G |