Linked Data
ClinVar Variation Id:
1740596
ClinVar RCV Id:
RCV002328247
MyVariant Identifiers:
chr17:g.41228552C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076535C>A , CM000679.2:g.43076535C>A | GRCh38 |
| NC_000017.10:g.41228552C>A , CM000679.1:g.41228552C>A | GRCh37 |
| NC_000017.9:g.38482078C>A | NCBI36 |
| NG_005905.2:g.141449G>T , LRG_292:g.141449G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4434G>T | ENSP00000417241.2:p.Val1478= | |
| ENST00000470026.6:c.4437G>T | ENSP00000419274.2:p.Val1479= | |
| ENST00000473961.6:c.4311G>T | ENSP00000420201.2:p.Val1437= | |
| ENST00000476777.6:c.4431G>T | ENSP00000417554.2:p.Val1477= | |
| ENST00000477152.6:c.4359G>T | ENSP00000419988.2:p.Val1453= | |
| ENST00000478531.6:c.1125G>T | ENSP00000420412.2:p.Val375= | |
| ENST00000489037.2:c.4359G>T | ENSP00000420781.2:p.Val1453= | |
| ENST00000493919.6:c.987G>T | ENSP00000418819.2:p.Val329= | |
| ENST00000494123.6:c.4437G>T | ENSP00000419103.2:p.Val1479= | |
| ENST00000497488.2:c.3549G>T | ENSP00000418986.2:p.Val1183= | |
| ENST00000618469.2:c.4437G>T | ENSP00000478114.2:p.Val1479= | |
| ENST00000634433.2:c.4314G>T | ENSP00000489431.2:p.Val1438= | |
| ENST00000644379.2:c.4503G>T | ENSP00000496570.2:p.Val1501= | |
| ENST00000644555.2:c.987G>T | ENSP00000494614.2:p.Val329= | |
| ENST00000652672.2:c.4296G>T | ENSP00000498906.2:p.Val1432= | |
| ENST00000484087.6:c.999G>T | ENSP00000419481.2:p.Val333= | |
| ENST00000700182.1:c.1044G>T | ENSP00000514849.1:p.Val348= | |
| ENST00000357654.9:c.4437G>T MANE Select | ENSP00000350283.3:p.Val1479= | |
| ENST00000471181.7:c.4500G>T | ENSP00000418960.2:p.Val1500= | |
| ENST00000644379.1:c.824G>T | ||
| ENST00000352993.7:c.1011G>T | ENSP00000312236.5:p.Val337= | |
| ENST00000357654.7:c.4437G>T | ENSP00000350283.3:p.Val1479= | |
| ENST00000461221.5:c.*4220G>T | ENSP00000418548.1:n.*4220G>T | |
| ENST00000468300.5:c.1125G>T | ENSP00000417148.1:p.Val375= | |
| ENST00000471181.6:c.4500G>T | ENSP00000418960.2:p.Val1500= | |
| ENST00000478531.5:c.1125G>T | ENSP00000420412.1:p.Val375= | |
| ENST00000484087.5:c.750G>T | ENSP00000419481.1:p.Val250= | |
| ENST00000487825.5:c.753G>T | ENSP00000418212.1:p.Val251= | |
| ENST00000491747.6:c.1125G>T | ENSP00000420705.2:p.Val375= | |
| ENST00000493795.5:c.4296G>T | ENSP00000418775.1:p.Val1432= | |
| ENST00000493919.5:c.987G>T | ENSP00000418819.1:p.Val329= | |
| ENST00000586385.5:c.5-12584G>T | ENSP00000465818.1:n.5-12584G>T | |
| ENST00000591534.5:c.-43-2014G>T | ENSP00000467329.1:n.-43-2014G>T | |
| ENST00000591849.5:c.-98-26345G>T | ENSP00000465347.1:n.-98-26345G>T | |
| ENST00000621897.1:n.328G>T | ||
| NM_007294.3:c.4437G>T , LRG_292t1:c.4437G>T | NP_009225.1:p.Val1479= | |
| NM_007297.3:c.4296G>T | NP_009228.2:p.Val1432= | |
| NM_007298.3:c.1125G>T | NP_009229.2:p.Val375= | |
| NM_007299.3:c.1125G>T | NP_009230.2:p.Val375= | |
| NM_007300.3:c.4500G>T | NP_009231.2:p.Val1500= | |
| NR_027676.1:n.4573G>T | ||
| NM_007294.4:c.4437G>T MANE Select | NP_009225.1:p.Val1479= | |
| NM_007297.4:c.4296G>T | NP_009228.2:p.Val1432= | |
| NM_007299.4:c.1125G>T | NP_009230.2:p.Val375= | |
| NM_007300.4:c.4500G>T | NP_009231.2:p.Val1500= | |
| NR_027676.2:n.4614G>T |