Linked Data
ClinVar Variation Id:
760191
ClinVar RCV Id:
RCV001479620
dbSNP Id:
rs1597878667
MyVariant Identifiers:
chr17:g.41246549A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094532A>T , CM000679.2:g.43094532A>T | GRCh38 |
| NC_000017.10:g.41246549A>T , CM000679.1:g.41246549A>T | GRCh37 |
| NC_000017.9:g.38500075A>T | NCBI36 |
| NG_005905.2:g.123452T>A , LRG_292:g.123452T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1063T>A | ||
| ENST00000461574.2:c.999T>A | ENSP00000417241.2:p.Thr333= | |
| ENST00000470026.6:c.999T>A | ENSP00000419274.2:p.Thr333= | |
| ENST00000473961.6:c.873T>A | ENSP00000420201.2:p.Thr291= | |
| ENST00000476777.6:c.996T>A | ENSP00000417554.2:p.Thr332= | |
| ENST00000477152.6:c.921T>A | ENSP00000419988.2:p.Thr307= | |
| ENST00000478531.6:c.784+212T>A | ENSP00000420412.2:n.784+212T>A | |
| ENST00000489037.2:c.921T>A | ENSP00000420781.2:p.Thr307= | |
| ENST00000493919.6:c.646+212T>A | ENSP00000418819.2:n.646+212T>A | |
| ENST00000494123.6:c.999T>A | ENSP00000419103.2:p.Thr333= | |
| ENST00000497488.2:c.111T>A | ENSP00000418986.2:p.Thr37= | |
| ENST00000618469.2:c.999T>A | ENSP00000478114.2:p.Thr333= | |
| ENST00000634433.2:c.876T>A | ENSP00000489431.2:p.Thr292= | |
| ENST00000644379.2:c.999T>A | ENSP00000496570.2:p.Thr333= | |
| ENST00000644555.2:c.646+212T>A | ENSP00000494614.2:n.646+212T>A | |
| ENST00000652672.2:c.858T>A | ENSP00000498906.2:p.Thr286= | |
| ENST00000484087.6:c.664+212T>A | ENSP00000419481.2:n.664+212T>A | |
| ENST00000700182.1:c.706+212T>A | ENSP00000514849.1:n.706+212T>A | |
| ENST00000700183.1:c.*1007T>A | ENSP00000514850.1:n.*1007T>A | |
| ENST00000357654.9:c.999T>A MANE Select | ENSP00000350283.3:p.Thr333= | |
| ENST00000471181.7:c.999T>A | ENSP00000418960.2:p.Thr333= | |
| ENST00000642945.1:c.*873T>A | ENSP00000495897.1:n.*873T>A | |
| ENST00000652672.1:c.858T>A | ENSP00000498906.1:p.Thr286= | |
| ENST00000352993.7:c.670+1314T>A | ENSP00000312236.5:n.670+1314T>A | |
| ENST00000354071.7:c.999T>A | ENSP00000326002.7:p.Thr333= | |
| ENST00000357654.7:c.999T>A | ENSP00000350283.3:p.Thr333= | |
| ENST00000412061.3:c.350T>A | ||
| ENST00000461221.5:c.*782T>A | ENSP00000418548.1:n.*782T>A | |
| ENST00000468300.5:c.787+212T>A | ENSP00000417148.1:n.787+212T>A | |
| ENST00000470026.5:c.999T>A | ENSP00000419274.1:p.Thr333= | |
| ENST00000471181.6:c.999T>A | ENSP00000418960.2:p.Thr333= | |
| ENST00000473961.5:c.596T>A | ||
| ENST00000477152.5:c.921T>A | ENSP00000419988.1:p.Thr307= | |
| ENST00000478531.5:c.784+212T>A | ENSP00000420412.1:n.784+212T>A | |
| ENST00000484087.5:c.409+212T>A | ENSP00000419481.1:n.409+212T>A | |
| ENST00000487825.5:c.412+212T>A | ENSP00000418212.1:n.412+212T>A | |
| ENST00000491747.6:c.787+212T>A | ENSP00000420705.2:n.787+212T>A | |
| ENST00000492859.5:c.*935T>A | ENSP00000420253.1:n.*935T>A | |
| ENST00000493795.5:c.858T>A | ENSP00000418775.1:p.Thr286= | |
| ENST00000493919.5:c.646+212T>A | ENSP00000418819.1:n.646+212T>A | |
| ENST00000494123.5:c.999T>A | ENSP00000419103.1:p.Thr333= | |
| ENST00000497488.1:c.111T>A | ENSP00000418986.1:p.Thr37= | |
| ENST00000586385.5:c.5-30581T>A | ENSP00000465818.1:n.5-30581T>A | |
| ENST00000591534.5:c.-43-20011T>A | ENSP00000467329.1:n.-43-20011T>A | |
| ENST00000591849.5:c.-99+30739T>A | ENSP00000465347.1:n.-99+30739T>A | |
| ENST00000634433.1:c.876T>A | ENSP00000489431.1:p.Thr292= | |
| NM_007294.3:c.999T>A , LRG_292t1:c.999T>A | NP_009225.1:p.Thr333= | |
| NM_007297.3:c.858T>A | NP_009228.2:p.Thr286= | |
| NM_007298.3:c.787+212T>A | NP_009229.2:n.787+212T>A | |
| NM_007299.3:c.787+212T>A | NP_009230.2:n.787+212T>A | |
| NM_007300.3:c.999T>A | NP_009231.2:p.Thr333= | |
| NR_027676.1:n.1135T>A | ||
| NM_007294.4:c.999T>A MANE Select | NP_009225.1:p.Thr333= | |
| NM_007297.4:c.858T>A | NP_009228.2:p.Thr286= | |
| NM_007299.4:c.787+212T>A | NP_009230.2:n.787+212T>A | |
| NM_007300.4:c.999T>A | NP_009231.2:p.Thr333= | |
| NR_027676.2:n.1176T>A |