Linked Data
ClinVar Variation Id:
55604
dbSNP Id:
rs273902776
ExAC:
17:41197783 C / T
gnomAD v2:
17-41197783-C-T
gnomAD v3:
17-43045766-C-T
gnomAD v4:
17-43045766-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045766C>T , CM000679.2:g.43045766C>T | GRCh38 |
| NC_000017.10:g.41197783C>T , CM000679.1:g.41197783C>T | GRCh37 |
| NC_000017.9:g.38451309C>T | NCBI36 |
| NG_005905.2:g.172218G>A , LRG_292:g.172218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5501G>A | ENSP00000417241.2:p.Arg1834Gln | |
| ENST00000470026.6:c.5504G>A | ENSP00000419274.2:p.Arg1835Gln | |
| ENST00000473961.6:c.5378G>A | ENSP00000420201.2:p.Arg1793Gln | |
| ENST00000476777.6:c.5498G>A | ENSP00000417554.2:p.Arg1833Gln | |
| ENST00000477152.6:c.5426G>A | ENSP00000419988.2:p.Arg1809Gln | |
| ENST00000478531.6:c.2192G>A | ENSP00000420412.2:p.Arg731Gln | |
| ENST00000489037.2:c.5426G>A | ENSP00000420781.2:p.Arg1809Gln | |
| ENST00000493919.6:c.2054G>A | ENSP00000418819.2:p.Arg685Gln | |
| ENST00000494123.6:c.5504G>A | ENSP00000419103.2:p.Arg1835Gln | |
| ENST00000497488.2:c.4616G>A | ENSP00000418986.2:p.Arg1539Gln | |
| ENST00000618469.2:c.5504G>A | ENSP00000478114.2:p.Arg1835Gln | |
| ENST00000634433.2:c.5381G>A | ENSP00000489431.2:p.Arg1794Gln | |
| ENST00000644379.2:c.5570G>A | ENSP00000496570.2:p.Arg1857Gln | |
| ENST00000644555.2:c.2054G>A | ENSP00000494614.2:p.Arg685Gln | |
| ENST00000652672.2:c.5363G>A | ENSP00000498906.2:p.Arg1788Gln | |
| ENST00000484087.6:c.2066G>A | ENSP00000419481.2:p.Arg689Gln | |
| ENST00000700081.1:n.1387G>A | ||
| ENST00000700082.1:n.868G>A | ||
| ENST00000357654.9:c.5504G>A MANE Select | ENSP00000350283.3:p.Arg1835Gln | |
| ENST00000471181.7:c.5567G>A | ENSP00000418960.2:p.Arg1856Gln | |
| ENST00000644379.1:c.1891G>A | ||
| ENST00000352993.7:c.2078G>A | ENSP00000312236.5:p.Arg693Gln | |
| ENST00000357654.7:c.5504G>A | ENSP00000350283.3:p.Arg1835Gln | |
| ENST00000461221.5:c.*5287G>A | ENSP00000418548.1:n.*5287G>A | |
| ENST00000468300.5:c.*18G>A | ENSP00000417148.1:n.*18G>A | |
| ENST00000471181.6:c.5567G>A | ENSP00000418960.2:p.Arg1856Gln | |
| ENST00000491747.6:c.2192G>A | ENSP00000420705.2:p.Arg731Gln | |
| ENST00000493795.5:c.5363G>A | ENSP00000418775.1:p.Arg1788Gln | |
| ENST00000586385.5:c.434G>A | ENSP00000465818.1:p.Arg145Gln | |
| ENST00000591534.5:c.977G>A | ENSP00000467329.1:p.Arg326Gln | |
| ENST00000591849.5:c.203G>A | ENSP00000465347.1:p.Arg68Gln | |
| NM_007294.3:c.5504G>A , LRG_292t1:c.5504G>A | NP_009225.1:p.Arg1835Gln | |
| NM_007297.3:c.5363G>A | NP_009228.2:p.Arg1788Gln | |
| NM_007298.3:c.2192G>A | NP_009229.2:p.Arg731Gln | |
| NM_007299.3:c.*18G>A | NP_009230.2:n.*18G>A | |
| NM_007300.3:c.5567G>A | NP_009231.2:p.Arg1856Gln | |
| NR_027676.1:n.5640G>A | ||
| NM_007294.4:c.5504G>A MANE Select | NP_009225.1:p.Arg1835Gln | |
| NM_007297.4:c.5363G>A | NP_009228.2:p.Arg1788Gln | |
| NM_007299.4:c.*18G>A | NP_009230.2:n.*18G>A | |
| NM_007300.4:c.5567G>A | NP_009231.2:p.Arg1856Gln | |
| NR_027676.2:n.5681G>A |