Linked Data
ClinVar Variation Id:
217716
ClinVar RCV Id:
RCV000201733
dbSNP Id:
rs863225229
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780608A>G , CM000670.2:g.93780608A>G | GRCh38 |
| NC_000008.10:g.94792836A>G , CM000670.1:g.94792836A>G | GRCh37 |
| NC_000008.9:g.94862012A>G | NCBI36 |
| NG_009190.1:g.30765A>G , LRG_688:g.30765A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.730A>G | ENSP00000314488.4:p.Thr244Ala | |
| ENST00000409623.8:c.730A>G | ENSP00000386966.4:p.Thr244Ala | |
| ENST00000452276.6:c.730A>G | ENSP00000388671.2:p.Thr244Ala | |
| ENST00000453906.6:c.407-5615A>G | ENSP00000403035.2:n.407-5615A>G | |
| ENST00000520680.2:c.730A>G | ENSP00000428785.2:p.Thr244Ala | |
| ENST00000521065.2:c.*447A>G | ENSP00000427947.2:n.*447A>G | |
| ENST00000521517.6:c.730A>G | ENSP00000430740.2:p.Thr244Ala | |
| ENST00000681998.1:c.660A>G | ENSP00000506773.1:n.660A>G | |
| ENST00000682036.1:c.407-5615A>G | ENSP00000508390.1:n.407-5615A>G | |
| ENST00000682577.1:c.660A>G | ENSP00000506963.1:n.660A>G | |
| ENST00000682624.1:c.*304A>G | ENSP00000508343.1:n.*304A>G | |
| ENST00000682700.1:c.730A>G | ENSP00000507627.1:p.Thr244Ala | |
| ENST00000682744.1:n.268A>G | ||
| ENST00000682804.1:n.553A>G | ||
| ENST00000682837.1:c.485A>G | ENSP00000507920.1:p.Asn162Ser | |
| ENST00000682935.1:n.2290A>G | ||
| ENST00000682984.1:c.391A>G | ENSP00000507209.1:p.Thr131Ala | |
| ENST00000683078.1:c.485A>G | ENSP00000506796.1:p.Asn162Ser | |
| ENST00000683223.1:c.571A>G | ENSP00000507685.1:n.571A>G | |
| ENST00000683238.1:n.2111A>G | ||
| ENST00000683249.1:n.2311A>G | ||
| ENST00000683336.1:c.660A>G | ENSP00000507695.1:n.660A>G | |
| ENST00000683362.1:c.391A>G | ENSP00000506985.1:p.Thr131Ala | |
| ENST00000683850.1:n.653A>G | ||
| ENST00000683919.1:c.660A>G | ENSP00000507617.1:n.660A>G | |
| ENST00000683953.1:c.641A>G | ENSP00000508375.1:n.641A>G | |
| ENST00000684023.1:c.864A>G | ENSP00000507461.1:n.864A>G | |
| ENST00000684064.1:c.421A>G | ENSP00000508192.1:p.Thr141Ala | |
| ENST00000684089.1:n.2280A>G | ||
| ENST00000684149.1:c.*66A>G | ENSP00000507943.1:n.*66A>G | |
| ENST00000684416.1:n.689A>G | ||
| ENST00000684540.1:c.660A>G | ENSP00000507987.1:n.660A>G | |
| ENST00000453321.8:c.730A>G MANE Select | ENSP00000389998.3:p.Thr244Ala | |
| ENST00000323130.7:c.700A>G | ENSP00000314488.3:p.Thr234Ala | |
| ENST00000409623.7:c.487A>G | ENSP00000386966.3:p.Thr163Ala | |
| ENST00000425545.2:n.177A>G | ||
| ENST00000452276.5:c.421A>G | ENSP00000388671.1:p.Thr141Ala | |
| ENST00000453321.7:c.730A>G | ENSP00000389998.3:p.Thr244Ala | |
| ENST00000453906.5:c.407-5615A>G | ENSP00000403035.1:n.407-5615A>G | |
| ENST00000474944.5:n.427-5615A>G | ||
| ENST00000496213.5:n.195A>G | ||
| NM_001142301.1:c.487A>G , LRG_688t2:c.487A>G | NP_001135773.1:p.Thr163Ala | |
| NM_153704.5:c.730A>G , LRG_688t1:c.730A>G | NP_714915.3:p.Thr244Ala | |
| NR_024522.1:n.801A>G | ||
| XM_006716686.2:c.427A>G | XP_006716749.1:p.Thr143Ala | |
| XM_006716687.2:c.130A>G | XP_006716750.1:p.Thr44Ala | |
| XM_011517363.1:c.407-5615A>G | XP_011515665.1:n.407-5615A>G | |
| XR_428387.1:n.788A>G | ||
| XR_928360.1:n.788A>G | ||
| XR_928361.1:n.788A>G | ||
| XR_928362.1:n.788A>G | ||
| XM_006716686.4:c.427A>G | XP_006716749.1:p.Thr143Ala | |
| XM_011517363.3:c.407-5615A>G | XP_011515665.1:n.407-5615A>G | |
| XM_024447326.1:c.76A>G | XP_024303094.1:p.Thr26Ala | |
| XR_001745619.2:n.771A>G | ||
| XR_428387.2:n.771A>G | ||
| XR_928360.3:n.771A>G | ||
| XR_928362.3:n.771A>G | ||
| NM_153704.6:c.730A>G MANE Select | NP_714915.3:p.Thr244Ala | |
| NR_024522.2:n.751A>G |