Linked Data
ClinVar Variation Id:
865580
ClinVar RCV Id:
RCV001073022
dbSNP Id:
rs397509258
MyVariant Identifiers:
chr17:g.41203105A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051088A>G , CM000679.2:g.43051088A>G | GRCh38 |
| NC_000017.10:g.41203105A>G , CM000679.1:g.41203105A>G | GRCh37 |
| NC_000017.9:g.38456631A>G | NCBI36 |
| NG_005905.2:g.166896T>C , LRG_292:g.166896T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5304T>C | ENSP00000417241.2:p.Tyr1768= | |
| ENST00000470026.6:c.5307T>C | ENSP00000419274.2:p.Tyr1769= | |
| ENST00000473961.6:c.5181T>C | ENSP00000420201.2:p.Tyr1727= | |
| ENST00000476777.6:c.5301T>C | ENSP00000417554.2:p.Tyr1767= | |
| ENST00000477152.6:c.5229T>C | ENSP00000419988.2:p.Tyr1743= | |
| ENST00000478531.6:c.1995T>C | ENSP00000420412.2:p.Tyr665= | |
| ENST00000489037.2:c.5229T>C | ENSP00000420781.2:p.Tyr1743= | |
| ENST00000493919.6:c.1857T>C | ENSP00000418819.2:p.Tyr619= | |
| ENST00000494123.6:c.5307T>C | ENSP00000419103.2:p.Tyr1769= | |
| ENST00000497488.2:c.4419T>C | ENSP00000418986.2:p.Tyr1473= | |
| ENST00000618469.2:c.5307T>C | ENSP00000478114.2:p.Tyr1769= | |
| ENST00000634433.2:c.5184T>C | ENSP00000489431.2:p.Tyr1728= | |
| ENST00000644379.2:c.5373T>C | ENSP00000496570.2:p.Tyr1791= | |
| ENST00000644555.2:c.1857T>C | ENSP00000494614.2:p.Tyr619= | |
| ENST00000652672.2:c.5166T>C | ENSP00000498906.2:p.Tyr1722= | |
| ENST00000484087.6:c.1869T>C | ENSP00000419481.2:p.Tyr623= | |
| ENST00000357654.9:c.5307T>C MANE Select | ENSP00000350283.3:p.Tyr1769= | |
| ENST00000471181.7:c.5370T>C | ENSP00000418960.2:p.Tyr1790= | |
| ENST00000644379.1:c.1694T>C | ||
| ENST00000352993.7:c.1881T>C | ENSP00000312236.5:p.Tyr627= | |
| ENST00000357654.7:c.5307T>C | ENSP00000350283.3:p.Tyr1769= | |
| ENST00000461221.5:c.*5090T>C | ENSP00000418548.1:n.*5090T>C | |
| ENST00000468300.5:c.1995T>C | ENSP00000417148.1:p.Tyr665= | |
| ENST00000471181.6:c.5370T>C | ENSP00000418960.2:p.Tyr1790= | |
| ENST00000491747.6:c.1995T>C | ENSP00000420705.2:p.Tyr665= | |
| ENST00000493795.5:c.5166T>C | ENSP00000418775.1:p.Tyr1722= | |
| ENST00000586385.5:c.237T>C | ENSP00000465818.1:p.Tyr79= | |
| ENST00000591534.5:c.780T>C | ENSP00000467329.1:p.Tyr260= | |
| ENST00000591849.5:c.-98-898T>C | ENSP00000465347.1:n.-98-898T>C | |
| NM_007294.3:c.5307T>C , LRG_292t1:c.5307T>C | NP_009225.1:p.Tyr1769= | |
| NM_007297.3:c.5166T>C | NP_009228.2:p.Tyr1722= | |
| NM_007298.3:c.1995T>C | NP_009229.2:p.Tyr665= | |
| NM_007299.3:c.1995T>C | NP_009230.2:p.Tyr665= | |
| NM_007300.3:c.5370T>C | NP_009231.2:p.Tyr1790= | |
| NR_027676.1:n.5443T>C | ||
| NM_007294.4:c.5307T>C MANE Select | NP_009225.1:p.Tyr1769= | |
| NM_007297.4:c.5166T>C | NP_009228.2:p.Tyr1722= | |
| NM_007299.4:c.1995T>C | NP_009230.2:p.Tyr665= | |
| NM_007300.4:c.5370T>C | NP_009231.2:p.Tyr1790= | |
| NR_027676.2:n.5484T>C |