Linked Data
ClinVar Variation Id:
182170
dbSNP Id:
rs730881499
ExAC:
17:41197810 T / A
gnomAD v2:
17-41197810-T-A
gnomAD v3:
17-43045793-T-A
gnomAD v4:
17-43045793-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045793T>A , CM000679.2:g.43045793T>A | GRCh38 |
| NC_000017.10:g.41197810T>A , CM000679.1:g.41197810T>A | GRCh37 |
| NC_000017.9:g.38451336T>A | NCBI36 |
| NG_005905.2:g.172191A>T , LRG_292:g.172191A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5474A>T | ENSP00000417241.2:p.Gln1825Leu | |
| ENST00000470026.6:c.5477A>T | ENSP00000419274.2:p.Gln1826Leu | |
| ENST00000473961.6:c.5351A>T | ENSP00000420201.2:p.Gln1784Leu | |
| ENST00000476777.6:c.5471A>T | ENSP00000417554.2:p.Gln1824Leu | |
| ENST00000477152.6:c.5399A>T | ENSP00000419988.2:p.Gln1800Leu | |
| ENST00000478531.6:c.2165A>T | ENSP00000420412.2:p.Gln722Leu | |
| ENST00000489037.2:c.5399A>T | ENSP00000420781.2:p.Gln1800Leu | |
| ENST00000493919.6:c.2027A>T | ENSP00000418819.2:p.Gln676Leu | |
| ENST00000494123.6:c.5477A>T | ENSP00000419103.2:p.Gln1826Leu | |
| ENST00000497488.2:c.4589A>T | ENSP00000418986.2:p.Gln1530Leu | |
| ENST00000618469.2:c.5477A>T | ENSP00000478114.2:p.Gln1826Leu | |
| ENST00000634433.2:c.5354A>T | ENSP00000489431.2:p.Gln1785Leu | |
| ENST00000644379.2:c.5543A>T | ENSP00000496570.2:p.Gln1848Leu | |
| ENST00000644555.2:c.2027A>T | ENSP00000494614.2:p.Gln676Leu | |
| ENST00000652672.2:c.5336A>T | ENSP00000498906.2:p.Gln1779Leu | |
| ENST00000484087.6:c.2039A>T | ENSP00000419481.2:p.Gln680Leu | |
| ENST00000700081.1:n.1360A>T | ||
| ENST00000700082.1:n.841A>T | ||
| ENST00000357654.9:c.5477A>T MANE Select | ENSP00000350283.3:p.Gln1826Leu | |
| ENST00000471181.7:c.5540A>T | ENSP00000418960.2:p.Gln1847Leu | |
| ENST00000644379.1:c.1864A>T | ||
| ENST00000352993.7:c.2051A>T | ENSP00000312236.5:p.Gln684Leu | |
| ENST00000357654.7:c.5477A>T | ENSP00000350283.3:p.Gln1826Leu | |
| ENST00000461221.5:c.*5260A>T | ENSP00000418548.1:n.*5260A>T | |
| ENST00000468300.5:c.2091A>T | ENSP00000417148.1:p.Ala697= | |
| ENST00000471181.6:c.5540A>T | ENSP00000418960.2:p.Gln1847Leu | |
| ENST00000491747.6:c.2165A>T | ENSP00000420705.2:p.Gln722Leu | |
| ENST00000493795.5:c.5336A>T | ENSP00000418775.1:p.Gln1779Leu | |
| ENST00000586385.5:c.407A>T | ENSP00000465818.1:p.Gln136Leu | |
| ENST00000591534.5:c.950A>T | ENSP00000467329.1:p.Gln317Leu | |
| ENST00000591849.5:c.176A>T | ENSP00000465347.1:p.Gln59Leu | |
| NM_007294.3:c.5477A>T , LRG_292t1:c.5477A>T | NP_009225.1:p.Gln1826Leu | |
| NM_007297.3:c.5336A>T | NP_009228.2:p.Gln1779Leu | |
| NM_007298.3:c.2165A>T | NP_009229.2:p.Gln722Leu | |
| NM_007299.3:c.2091A>T | NP_009230.2:p.Ala697= | |
| NM_007300.3:c.5540A>T | NP_009231.2:p.Gln1847Leu | |
| NR_027676.1:n.5613A>T | ||
| NM_007294.4:c.5477A>T MANE Select | NP_009225.1:p.Gln1826Leu | |
| NM_007297.4:c.5336A>T | NP_009228.2:p.Gln1779Leu | |
| NM_007299.4:c.2091A>T | NP_009230.2:p.Ala697= | |
| NM_007300.4:c.5540A>T | NP_009231.2:p.Gln1847Leu | |
| NR_027676.2:n.5654A>T |