Linked Data
ClinVar Variation Id:
864887
ClinVar RCV Id:
RCV001072174
dbSNP Id:
rs1060504555
MyVariant Identifiers:
chr17:g.41219644A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067627A>T , CM000679.2:g.43067627A>T | GRCh38 |
| NC_000017.10:g.41219644A>T , CM000679.1:g.41219644A>T | GRCh37 |
| NC_000017.9:g.38473170A>T | NCBI36 |
| NG_005905.2:g.150357T>A , LRG_292:g.150357T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5052T>A | ENSP00000417241.2:p.Thr1684= | |
| ENST00000470026.6:c.5055T>A | ENSP00000419274.2:p.Thr1685= | |
| ENST00000473961.6:c.4929T>A | ENSP00000420201.2:p.Thr1643= | |
| ENST00000476777.6:c.5049T>A | ENSP00000417554.2:p.Thr1683= | |
| ENST00000477152.6:c.4977T>A | ENSP00000419988.2:p.Thr1659= | |
| ENST00000478531.6:c.1743T>A | ENSP00000420412.2:p.Thr581= | |
| ENST00000489037.2:c.4977T>A | ENSP00000420781.2:p.Thr1659= | |
| ENST00000493919.6:c.1605T>A | ENSP00000418819.2:p.Thr535= | |
| ENST00000494123.6:c.5055T>A | ENSP00000419103.2:p.Thr1685= | |
| ENST00000497488.2:c.4167T>A | ENSP00000418986.2:p.Thr1389= | |
| ENST00000618469.2:c.5055T>A | ENSP00000478114.2:p.Thr1685= | |
| ENST00000634433.2:c.4932T>A | ENSP00000489431.2:p.Thr1644= | |
| ENST00000644379.2:c.5121T>A | ENSP00000496570.2:p.Thr1707= | |
| ENST00000644555.2:c.1605T>A | ENSP00000494614.2:p.Thr535= | |
| ENST00000652672.2:c.4914T>A | ENSP00000498906.2:p.Thr1638= | |
| ENST00000484087.6:c.1617T>A | ENSP00000419481.2:p.Thr539= | |
| ENST00000357654.9:c.5055T>A MANE Select | ENSP00000350283.3:p.Thr1685= | |
| ENST00000471181.7:c.5118T>A | ENSP00000418960.2:p.Thr1706= | |
| ENST00000644379.1:c.1442T>A | ||
| ENST00000352993.7:c.1629T>A | ENSP00000312236.5:p.Thr543= | |
| ENST00000357654.7:c.5055T>A | ENSP00000350283.3:p.Thr1685= | |
| ENST00000461221.5:c.*4838T>A | ENSP00000418548.1:n.*4838T>A | |
| ENST00000468300.5:c.1743T>A | ENSP00000417148.1:p.Thr581= | |
| ENST00000471181.6:c.5118T>A | ENSP00000418960.2:p.Thr1706= | |
| ENST00000472490.1:n.208T>A | ||
| ENST00000478531.5:c.1743T>A | ENSP00000420412.1:p.Thr581= | |
| ENST00000484087.5:c.1368T>A | ENSP00000419481.1:p.Thr456= | |
| ENST00000491747.6:c.1743T>A | ENSP00000420705.2:p.Thr581= | |
| ENST00000493795.5:c.4914T>A | ENSP00000418775.1:p.Thr1638= | |
| ENST00000493919.5:c.1605T>A | ENSP00000418819.1:p.Thr535= | |
| ENST00000586385.5:c.5-3676T>A | ENSP00000465818.1:n.5-3676T>A | |
| ENST00000591534.5:c.528T>A | ENSP00000467329.1:p.Thr176= | |
| ENST00000591849.5:c.-98-17437T>A | ENSP00000465347.1:n.-98-17437T>A | |
| NM_007294.3:c.5055T>A , LRG_292t1:c.5055T>A | NP_009225.1:p.Thr1685= | |
| NM_007297.3:c.4914T>A | NP_009228.2:p.Thr1638= | |
| NM_007298.3:c.1743T>A | NP_009229.2:p.Thr581= | |
| NM_007299.3:c.1743T>A | NP_009230.2:p.Thr581= | |
| NM_007300.3:c.5118T>A | NP_009231.2:p.Thr1706= | |
| NR_027676.1:n.5191T>A | ||
| NM_007294.4:c.5055T>A MANE Select | NP_009225.1:p.Thr1685= | |
| NM_007297.4:c.4914T>A | NP_009228.2:p.Thr1638= | |
| NM_007299.4:c.1743T>A | NP_009230.2:p.Thr581= | |
| NM_007300.4:c.5118T>A | NP_009231.2:p.Thr1706= | |
| NR_027676.2:n.5232T>A |