Linked Data
ClinVar Variation Id:
262749
dbSNP Id:
rs115967793
ExAC:
8:94828644 A / G
gnomAD v2:
8-94828644-A-G
gnomAD v3:
8-93816416-A-G
gnomAD v4:
8-93816416-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93816416A>G , CM000670.2:g.93816416A>G | GRCh38 |
| NC_000008.10:g.94828644A>G , CM000670.1:g.94828644A>G | GRCh37 |
| NC_000008.9:g.94897820A>G | NCBI36 |
| NG_009190.1:g.66573A>G , LRG_688:g.66573A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2952A>G | ENSP00000314488.4:p.Ala984= | |
| ENST00000409623.8:c.2907A>G | ENSP00000386966.4:p.Ala969= | |
| ENST00000452276.6:c.2835A>G | ENSP00000388671.2:p.Ala945= | |
| ENST00000453906.6:c.2070A>G | ENSP00000403035.2:p.Ala690= | |
| ENST00000518896.2:c.1243A>G | ENSP00000507992.1:n.1243A>G | |
| ENST00000520680.2:c.3075A>G | ENSP00000428785.2:p.Ala1025= | |
| ENST00000521517.6:c.2853A>G | ENSP00000430740.2:p.Ala951= | |
| ENST00000681998.1:c.2773A>G | ENSP00000506773.1:n.2773A>G | |
| ENST00000682036.1:c.2193A>G | ENSP00000508390.1:p.Ala731= | |
| ENST00000682577.1:c.2725A>G | ENSP00000506963.1:n.2725A>G | |
| ENST00000682624.1:c.*2526A>G | ENSP00000508343.1:n.*2526A>G | |
| ENST00000682700.1:c.3083A>G | ENSP00000507627.1:n.3083A>G | |
| ENST00000682744.1:n.2387A>G | ||
| ENST00000682804.1:n.2775A>G | ||
| ENST00000682837.1:c.2441A>G | ENSP00000507920.1:n.2441A>G | |
| ENST00000682935.1:n.5002A>G | ||
| ENST00000682984.1:c.2613A>G | ENSP00000507209.1:p.Ala871= | |
| ENST00000683078.1:c.2707A>G | ENSP00000506796.1:n.2707A>G | |
| ENST00000683223.1:c.2878A>G | ENSP00000507685.1:n.2878A>G | |
| ENST00000683238.1:n.4176A>G | ||
| ENST00000683249.1:n.4549A>G | ||
| ENST00000683336.1:c.2670A>G | ENSP00000507695.1:n.2670A>G | |
| ENST00000683362.1:c.2613A>G | ENSP00000506985.1:p.Ala871= | |
| ENST00000683919.1:c.2882A>G | ENSP00000507617.1:n.2882A>G | |
| ENST00000683953.1:c.2863A>G | ENSP00000508375.1:n.2863A>G | |
| ENST00000684023.1:c.3123A>G | ENSP00000507461.1:n.3123A>G | |
| ENST00000684064.1:c.2643A>G | ENSP00000508192.1:p.Ala881= | |
| ENST00000684089.1:n.4502A>G | ||
| ENST00000684149.1:c.*2131A>G | ENSP00000507943.1:n.*2131A>G | |
| ENST00000684343.1:c.1149A>G | ENSP00000507591.1:p.Ala383= | |
| ENST00000684416.1:n.2911A>G | ||
| ENST00000684540.1:c.3076A>G | ENSP00000507987.1:n.3076A>G | |
| ENST00000453321.8:c.2952A>G MANE Select | ENSP00000389998.3:p.Ala984= | |
| ENST00000323130.7:c.2922A>G | ENSP00000314488.3:p.Ala974= | |
| ENST00000409623.7:c.2709A>G | ENSP00000386966.3:p.Ala903= | |
| ENST00000453321.7:c.2952A>G | ENSP00000389998.3:p.Ala984= | |
| ENST00000463467.2:n.9A>G | ||
| ENST00000518896.1:n.218A>G | ||
| ENST00000519845.5:n.1684A>G | ||
| NM_001142301.1:c.2709A>G , LRG_688t2:c.2709A>G | NP_001135773.1:p.Ala903= | |
| NM_153704.5:c.2952A>G , LRG_688t1:c.2952A>G | NP_714915.3:p.Ala984= | |
| NR_024522.1:n.3023A>G | ||
| XM_006716686.2:c.2649A>G | XP_006716749.1:p.Ala883= | |
| XM_006716687.2:c.2352A>G | XP_006716750.1:p.Ala784= | |
| XM_011517363.1:c.2070A>G | XP_011515665.1:p.Ala690= | |
| XR_428387.1:n.3010A>G | ||
| XR_928360.1:n.3010A>G | ||
| XR_928361.1:n.3010A>G | ||
| XR_928362.1:n.3204A>G | ||
| XM_006716686.4:c.2649A>G | XP_006716749.1:p.Ala883= | |
| XM_011517363.3:c.2070A>G | XP_011515665.1:p.Ala690= | |
| XM_024447326.1:c.2298A>G | XP_024303094.1:p.Ala766= | |
| XR_001745619.2:n.2993A>G | ||
| XR_428387.2:n.2993A>G | ||
| XR_928360.3:n.2993A>G | ||
| XR_928362.3:n.3187A>G | ||
| NM_153704.6:c.2952A>G MANE Select | NP_714915.3:p.Ala984= | |
| NR_024522.2:n.2973A>G |