Linked Data
ClinVar Variation Id:
184974
ClinVar RCV Id:
RCV000164324
dbSNP Id:
rs786201835
PubMed:
PMID:17585314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076606T>C , CM000679.2:g.43076606T>C | GRCh38 |
| NC_000017.10:g.41228623T>C , CM000679.1:g.41228623T>C | GRCh37 |
| NC_000017.9:g.38482149T>C | NCBI36 |
| NG_005905.2:g.141378A>G , LRG_292:g.141378A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4363A>G | ENSP00000417241.2:p.Thr1455Ala | |
| ENST00000470026.6:c.4366A>G | ENSP00000419274.2:p.Thr1456Ala | |
| ENST00000473961.6:c.4240A>G | ENSP00000420201.2:p.Thr1414Ala | |
| ENST00000476777.6:c.4360A>G | ENSP00000417554.2:p.Thr1454Ala | |
| ENST00000477152.6:c.4288A>G | ENSP00000419988.2:p.Thr1430Ala | |
| ENST00000478531.6:c.1054A>G | ENSP00000420412.2:p.Thr352Ala | |
| ENST00000489037.2:c.4288A>G | ENSP00000420781.2:p.Thr1430Ala | |
| ENST00000493919.6:c.916A>G | ENSP00000418819.2:p.Thr306Ala | |
| ENST00000494123.6:c.4366A>G | ENSP00000419103.2:p.Thr1456Ala | |
| ENST00000497488.2:c.3478A>G | ENSP00000418986.2:p.Thr1160Ala | |
| ENST00000618469.2:c.4366A>G | ENSP00000478114.2:p.Thr1456Ala | |
| ENST00000634433.2:c.4243A>G | ENSP00000489431.2:p.Thr1415Ala | |
| ENST00000644379.2:c.4432A>G | ENSP00000496570.2:p.Thr1478Ala | |
| ENST00000644555.2:c.916A>G | ENSP00000494614.2:p.Thr306Ala | |
| ENST00000652672.2:c.4225A>G | ENSP00000498906.2:p.Thr1409Ala | |
| ENST00000484087.6:c.928A>G | ENSP00000419481.2:p.Thr310Ala | |
| ENST00000700182.1:c.973A>G | ENSP00000514849.1:p.Thr325Ala | |
| ENST00000357654.9:c.4366A>G MANE Select | ENSP00000350283.3:p.Thr1456Ala | |
| ENST00000471181.7:c.4429A>G | ENSP00000418960.2:p.Thr1477Ala | |
| ENST00000644379.1:c.753A>G | ||
| ENST00000352993.7:c.940A>G | ENSP00000312236.5:p.Thr314Ala | |
| ENST00000357654.7:c.4366A>G | ENSP00000350283.3:p.Thr1456Ala | |
| ENST00000461221.5:c.*4149A>G | ENSP00000418548.1:n.*4149A>G | |
| ENST00000461574.1:c.657A>G | ||
| ENST00000468300.5:c.1054A>G | ENSP00000417148.1:p.Thr352Ala | |
| ENST00000471181.6:c.4429A>G | ENSP00000418960.2:p.Thr1477Ala | |
| ENST00000478531.5:c.1054A>G | ENSP00000420412.1:p.Thr352Ala | |
| ENST00000484087.5:c.679A>G | ENSP00000419481.1:p.Thr227Ala | |
| ENST00000487825.5:c.682A>G | ENSP00000418212.1:p.Thr228Ala | |
| ENST00000491747.6:c.1054A>G | ENSP00000420705.2:p.Thr352Ala | |
| ENST00000493795.5:c.4225A>G | ENSP00000418775.1:p.Thr1409Ala | |
| ENST00000493919.5:c.916A>G | ENSP00000418819.1:p.Thr306Ala | |
| ENST00000586385.5:c.5-12655A>G | ENSP00000465818.1:n.5-12655A>G | |
| ENST00000591534.5:c.-43-2085A>G | ENSP00000467329.1:n.-43-2085A>G | |
| ENST00000591849.5:c.-98-26416A>G | ENSP00000465347.1:n.-98-26416A>G | |
| ENST00000621897.1:n.257A>G | ||
| NM_007294.3:c.4366A>G , LRG_292t1:c.4366A>G | NP_009225.1:p.Thr1456Ala | |
| NM_007297.3:c.4225A>G | NP_009228.2:p.Thr1409Ala | |
| NM_007298.3:c.1054A>G | NP_009229.2:p.Thr352Ala | |
| NM_007299.3:c.1054A>G | NP_009230.2:p.Thr352Ala | |
| NM_007300.3:c.4429A>G | NP_009231.2:p.Thr1477Ala | |
| NR_027676.1:n.4502A>G | ||
| NM_007294.4:c.4366A>G MANE Select | NP_009225.1:p.Thr1456Ala | |
| NM_007297.4:c.4225A>G | NP_009228.2:p.Thr1409Ala | |
| NM_007299.4:c.1054A>G | NP_009230.2:p.Thr352Ala | |
| NM_007300.4:c.4429A>G | NP_009231.2:p.Thr1477Ala | |
| NR_027676.2:n.4543A>G |