Linked Data
ClinVar Variation Id:
217728
ClinVar RCV Id:
RCV000201527
dbSNP Id:
rs863225237
gnomAD v2:
8-94794638-G-T
gnomAD v4:
8-93782410-G-T
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93782410G>T , CM000670.2:g.93782410G>T | GRCh38 |
| NC_000008.10:g.94794638G>T , CM000670.1:g.94794638G>T | GRCh37 |
| NC_000008.9:g.94863814G>T | NCBI36 |
| NG_009190.1:g.32567G>T , LRG_688:g.32567G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1081G>T | ENSP00000314488.4:p.Glu361Ter | |
| ENST00000409623.8:c.1081G>T | ENSP00000386966.4:p.Glu361Ter | |
| ENST00000452276.6:c.1081G>T | ENSP00000388671.2:p.Glu361Ter | |
| ENST00000453906.6:c.407-3813G>T | ENSP00000403035.2:n.407-3813G>T | |
| ENST00000520680.2:c.1081G>T | ENSP00000428785.2:p.Glu361Ter | |
| ENST00000521065.2:c.*1229G>T | ENSP00000427947.2:n.*1229G>T | |
| ENST00000521517.6:c.1081G>T | ENSP00000430740.2:p.Glu361Ter | |
| ENST00000681998.1:c.902G>T | ENSP00000506773.1:n.902G>T | |
| ENST00000682036.1:c.407-3813G>T | ENSP00000508390.1:n.407-3813G>T | |
| ENST00000682577.1:c.1011G>T | ENSP00000506963.1:n.1011G>T | |
| ENST00000682624.1:c.*655G>T | ENSP00000508343.1:n.*655G>T | |
| ENST00000682700.1:c.1081G>T | ENSP00000507627.1:p.Glu361Ter | |
| ENST00000682744.1:n.619G>T | ||
| ENST00000682804.1:n.904G>T | ||
| ENST00000682837.1:c.727G>T | ENSP00000507920.1:n.727G>T | |
| ENST00000682935.1:n.2641G>T | ||
| ENST00000682984.1:c.742G>T | ENSP00000507209.1:p.Glu248Ter | |
| ENST00000683078.1:c.836G>T | ENSP00000506796.1:n.836G>T | |
| ENST00000683223.1:c.813G>T | ENSP00000507685.1:n.813G>T | |
| ENST00000683238.1:n.2462G>T | ||
| ENST00000683249.1:n.2678G>T | ||
| ENST00000683336.1:c.902G>T | ENSP00000507695.1:n.902G>T | |
| ENST00000683362.1:c.742G>T | ENSP00000506985.1:p.Glu248Ter | |
| ENST00000683850.1:n.1004G>T | ||
| ENST00000683919.1:c.1011G>T | ENSP00000507617.1:n.1011G>T | |
| ENST00000683953.1:c.992G>T | ENSP00000508375.1:n.992G>T | |
| ENST00000684023.1:c.1215G>T | ENSP00000507461.1:n.1215G>T | |
| ENST00000684064.1:c.772G>T | ENSP00000508192.1:p.Glu258Ter | |
| ENST00000684089.1:n.2631G>T | ||
| ENST00000684149.1:c.*417G>T | ENSP00000507943.1:n.*417G>T | |
| ENST00000684416.1:n.1040G>T | ||
| ENST00000684540.1:c.1011G>T | ENSP00000507987.1:n.1011G>T | |
| ENST00000453321.8:c.1081G>T MANE Select | ENSP00000389998.3:p.Glu361Ter | |
| ENST00000323130.7:c.1051G>T | ENSP00000314488.3:p.Glu351Ter | |
| ENST00000409623.7:c.838G>T | ENSP00000386966.3:p.Glu280Ter | |
| ENST00000425545.2:n.528G>T | ||
| ENST00000452276.5:c.772G>T | ENSP00000388671.1:p.Glu258Ter | |
| ENST00000453321.7:c.1081G>T | ENSP00000389998.3:p.Glu361Ter | |
| ENST00000453906.5:c.407-3813G>T | ENSP00000403035.1:n.407-3813G>T | |
| ENST00000474944.5:n.427-3813G>T | ||
| NM_001142301.1:c.838G>T , LRG_688t2:c.838G>T | NP_001135773.1:p.Glu280Ter | |
| NM_153704.5:c.1081G>T , LRG_688t1:c.1081G>T | NP_714915.3:p.Glu361Ter | |
| NR_024522.1:n.1152G>T | ||
| XM_006716686.2:c.778G>T | XP_006716749.1:p.Glu260Ter | |
| XM_006716687.2:c.481G>T | XP_006716750.1:p.Glu161Ter | |
| XM_011517363.1:c.407-3813G>T | XP_011515665.1:n.407-3813G>T | |
| XR_428387.1:n.1139G>T | ||
| XR_928360.1:n.1139G>T | ||
| XR_928361.1:n.1139G>T | ||
| XR_928362.1:n.1139G>T | ||
| XM_006716686.4:c.778G>T | XP_006716749.1:p.Glu260Ter | |
| XM_011517363.3:c.407-3813G>T | XP_011515665.1:n.407-3813G>T | |
| XM_024447326.1:c.427G>T | XP_024303094.1:p.Glu143Ter | |
| XR_001745619.2:n.1122G>T | ||
| XR_428387.2:n.1122G>T | ||
| XR_928360.3:n.1122G>T | ||
| XR_928362.3:n.1122G>T | ||
| NM_153704.6:c.1081G>T MANE Select | NP_714915.3:p.Glu361Ter | |
| NR_024522.2:n.1102G>T |