Linked Data
ClinVar Variation Id:
2681812
ClinVar RCV Id:
RCV003477104
gnomAD v4:
17-43076529-T-C
MyVariant Identifiers:
chr17:g.41228546T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076529T>C , CM000679.2:g.43076529T>C | GRCh38 |
| NC_000017.10:g.41228546T>C , CM000679.1:g.41228546T>C | GRCh37 |
| NC_000017.9:g.38482072T>C | NCBI36 |
| NG_005905.2:g.141455A>G , LRG_292:g.141455A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4440A>G | ENSP00000417241.2:p.Ala1480= | |
| ENST00000470026.6:c.4443A>G | ENSP00000419274.2:p.Ala1481= | |
| ENST00000473961.6:c.4317A>G | ENSP00000420201.2:p.Ala1439= | |
| ENST00000476777.6:c.4437A>G | ENSP00000417554.2:p.Ala1479= | |
| ENST00000477152.6:c.4365A>G | ENSP00000419988.2:p.Ala1455= | |
| ENST00000478531.6:c.1131A>G | ENSP00000420412.2:p.Ala377= | |
| ENST00000489037.2:c.4365A>G | ENSP00000420781.2:p.Ala1455= | |
| ENST00000493919.6:c.993A>G | ENSP00000418819.2:p.Ala331= | |
| ENST00000494123.6:c.4443A>G | ENSP00000419103.2:p.Ala1481= | |
| ENST00000497488.2:c.3555A>G | ENSP00000418986.2:p.Ala1185= | |
| ENST00000618469.2:c.4443A>G | ENSP00000478114.2:p.Ala1481= | |
| ENST00000634433.2:c.4320A>G | ENSP00000489431.2:p.Ala1440= | |
| ENST00000644379.2:c.4509A>G | ENSP00000496570.2:p.Ala1503= | |
| ENST00000644555.2:c.993A>G | ENSP00000494614.2:p.Ala331= | |
| ENST00000652672.2:c.4302A>G | ENSP00000498906.2:p.Ala1434= | |
| ENST00000484087.6:c.1005A>G | ENSP00000419481.2:p.Ala335= | |
| ENST00000700182.1:c.1050A>G | ENSP00000514849.1:p.Ala350= | |
| ENST00000357654.9:c.4443A>G MANE Select | ENSP00000350283.3:p.Ala1481= | |
| ENST00000471181.7:c.4506A>G | ENSP00000418960.2:p.Ala1502= | |
| ENST00000644379.1:c.830A>G | ||
| ENST00000352993.7:c.1017A>G | ENSP00000312236.5:p.Ala339= | |
| ENST00000357654.7:c.4443A>G | ENSP00000350283.3:p.Ala1481= | |
| ENST00000461221.5:c.*4226A>G | ENSP00000418548.1:n.*4226A>G | |
| ENST00000468300.5:c.1131A>G | ENSP00000417148.1:p.Ala377= | |
| ENST00000471181.6:c.4506A>G | ENSP00000418960.2:p.Ala1502= | |
| ENST00000478531.5:c.1131A>G | ENSP00000420412.1:p.Ala377= | |
| ENST00000484087.5:c.756A>G | ENSP00000419481.1:p.Ala252= | |
| ENST00000487825.5:c.759A>G | ENSP00000418212.1:p.Ala253= | |
| ENST00000491747.6:c.1131A>G | ENSP00000420705.2:p.Ala377= | |
| ENST00000493795.5:c.4302A>G | ENSP00000418775.1:p.Ala1434= | |
| ENST00000493919.5:c.993A>G | ENSP00000418819.1:p.Ala331= | |
| ENST00000586385.5:c.5-12578A>G | ENSP00000465818.1:n.5-12578A>G | |
| ENST00000591534.5:c.-43-2008A>G | ENSP00000467329.1:n.-43-2008A>G | |
| ENST00000591849.5:c.-98-26339A>G | ENSP00000465347.1:n.-98-26339A>G | |
| ENST00000621897.1:n.334A>G | ||
| NM_007294.3:c.4443A>G , LRG_292t1:c.4443A>G | NP_009225.1:p.Ala1481= | |
| NM_007297.3:c.4302A>G | NP_009228.2:p.Ala1434= | |
| NM_007298.3:c.1131A>G | NP_009229.2:p.Ala377= | |
| NM_007299.3:c.1131A>G | NP_009230.2:p.Ala377= | |
| NM_007300.3:c.4506A>G | NP_009231.2:p.Ala1502= | |
| NR_027676.1:n.4579A>G | ||
| NM_007294.4:c.4443A>G MANE Select | NP_009225.1:p.Ala1481= | |
| NM_007297.4:c.4302A>G | NP_009228.2:p.Ala1434= | |
| NM_007299.4:c.1131A>G | NP_009230.2:p.Ala377= | |
| NM_007300.4:c.4506A>G | NP_009231.2:p.Ala1502= | |
| NR_027676.2:n.4620A>G |