Linked Data
ClinVar Variation Id:
1083447
dbSNP Id:
rs200110207
ExAC:
8:94793114 T / C
gnomAD v2:
8-94793114-T-C
gnomAD v3:
8-93780886-T-C
gnomAD v4:
8-93780886-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780886T>C , CM000670.2:g.93780886T>C | GRCh38 |
| NC_000008.10:g.94793114T>C , CM000670.1:g.94793114T>C | GRCh37 |
| NC_000008.9:g.94862290T>C | NCBI36 |
| NG_009190.1:g.31043T>C , LRG_688:g.31043T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.882T>C | ENSP00000314488.4:p.Leu294= | |
| ENST00000409623.8:c.882T>C | ENSP00000386966.4:p.Leu294= | |
| ENST00000452276.6:c.882T>C | ENSP00000388671.2:p.Leu294= | |
| ENST00000453906.6:c.407-5337T>C | ENSP00000403035.2:n.407-5337T>C | |
| ENST00000520680.2:c.882T>C | ENSP00000428785.2:p.Leu294= | |
| ENST00000521065.2:c.*599T>C | ENSP00000427947.2:n.*599T>C | |
| ENST00000521517.6:c.882T>C | ENSP00000430740.2:p.Leu294= | |
| ENST00000681998.1:c.799+139T>C | ENSP00000506773.1:n.799+139T>C | |
| ENST00000682036.1:c.407-5337T>C | ENSP00000508390.1:n.407-5337T>C | |
| ENST00000682577.1:c.812T>C | ENSP00000506963.1:n.812T>C | |
| ENST00000682624.1:c.*456T>C | ENSP00000508343.1:n.*456T>C | |
| ENST00000682700.1:c.882T>C | ENSP00000507627.1:p.Leu294= | |
| ENST00000682744.1:n.420T>C | ||
| ENST00000682804.1:n.705T>C | ||
| ENST00000682837.1:c.624+139T>C | ENSP00000507920.1:n.624+139T>C | |
| ENST00000682935.1:n.2442T>C | ||
| ENST00000682984.1:c.543T>C | ENSP00000507209.1:p.Leu181= | |
| ENST00000683078.1:c.637T>C | ENSP00000506796.1:n.637T>C | |
| ENST00000683223.1:c.710+139T>C | ENSP00000507685.1:n.710+139T>C | |
| ENST00000683238.1:n.2263T>C | ||
| ENST00000683249.1:n.2479T>C | ||
| ENST00000683336.1:c.799+139T>C | ENSP00000507695.1:n.799+139T>C | |
| ENST00000683362.1:c.543T>C | ENSP00000506985.1:p.Leu181= | |
| ENST00000683850.1:n.805T>C | ||
| ENST00000683919.1:c.812T>C | ENSP00000507617.1:n.812T>C | |
| ENST00000683953.1:c.793T>C | ENSP00000508375.1:n.793T>C | |
| ENST00000684023.1:c.1016T>C | ENSP00000507461.1:n.1016T>C | |
| ENST00000684064.1:c.573T>C | ENSP00000508192.1:p.Leu191= | |
| ENST00000684089.1:n.2432T>C | ||
| ENST00000684149.1:c.*218T>C | ENSP00000507943.1:n.*218T>C | |
| ENST00000684416.1:n.841T>C | ||
| ENST00000684540.1:c.812T>C | ENSP00000507987.1:n.812T>C | |
| ENST00000453321.8:c.882T>C MANE Select | ENSP00000389998.3:p.Leu294= | |
| ENST00000323130.7:c.852T>C | ENSP00000314488.3:p.Leu284= | |
| ENST00000409623.7:c.639T>C | ENSP00000386966.3:p.Leu213= | |
| ENST00000425545.2:n.329T>C | ||
| ENST00000452276.5:c.573T>C | ENSP00000388671.1:p.Leu191= | |
| ENST00000453321.7:c.882T>C | ENSP00000389998.3:p.Leu294= | |
| ENST00000453906.5:c.407-5337T>C | ENSP00000403035.1:n.407-5337T>C | |
| ENST00000474944.5:n.427-5337T>C | ||
| ENST00000496213.5:n.347T>C | ||
| NM_001142301.1:c.639T>C , LRG_688t2:c.639T>C | NP_001135773.1:p.Leu213= | |
| NM_153704.5:c.882T>C , LRG_688t1:c.882T>C | NP_714915.3:p.Leu294= | |
| NR_024522.1:n.953T>C | ||
| XM_006716686.2:c.579T>C | XP_006716749.1:p.Leu193= | |
| XM_006716687.2:c.282T>C | XP_006716750.1:p.Leu94= | |
| XM_011517363.1:c.407-5337T>C | XP_011515665.1:n.407-5337T>C | |
| XR_428387.1:n.940T>C | ||
| XR_928360.1:n.940T>C | ||
| XR_928361.1:n.940T>C | ||
| XR_928362.1:n.940T>C | ||
| XM_006716686.4:c.579T>C | XP_006716749.1:p.Leu193= | |
| XM_011517363.3:c.407-5337T>C | XP_011515665.1:n.407-5337T>C | |
| XM_024447326.1:c.228T>C | XP_024303094.1:p.Leu76= | |
| XR_001745619.2:n.923T>C | ||
| XR_428387.2:n.923T>C | ||
| XR_928360.3:n.923T>C | ||
| XR_928362.3:n.923T>C | ||
| NM_153704.6:c.882T>C MANE Select | NP_714915.3:p.Leu294= | |
| NR_024522.2:n.903T>C |