Linked Data
ClinVar Variation Id:
246518
dbSNP Id:
rs28897699
gnomAD v3:
17-43045699-C-A
gnomAD v4:
17-43045699-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045699C>A , CM000679.2:g.43045699C>A | GRCh38 |
| NC_000017.10:g.41197716C>A , CM000679.1:g.41197716C>A | GRCh37 |
| NC_000017.9:g.38451242C>A | NCBI36 |
| NG_005905.2:g.172285G>T , LRG_292:g.172285G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5568G>T | ENSP00000417241.2:p.Gln1856His | |
| ENST00000470026.6:c.5571G>T | ENSP00000419274.2:p.Gln1857His | |
| ENST00000473961.6:c.5445G>T | ENSP00000420201.2:p.Gln1815His | |
| ENST00000476777.6:c.5565G>T | ENSP00000417554.2:p.Gln1855His | |
| ENST00000477152.6:c.5493G>T | ENSP00000419988.2:p.Gln1831His | |
| ENST00000478531.6:c.2259G>T | ENSP00000420412.2:p.Gln753His | |
| ENST00000489037.2:c.5493G>T | ENSP00000420781.2:p.Gln1831His | |
| ENST00000493919.6:c.2121G>T | ENSP00000418819.2:p.Gln707His | |
| ENST00000494123.6:c.5571G>T | ENSP00000419103.2:p.Gln1857His | |
| ENST00000497488.2:c.4683G>T | ENSP00000418986.2:p.Gln1561His | |
| ENST00000618469.2:c.5571G>T | ENSP00000478114.2:p.Gln1857His | |
| ENST00000634433.2:c.5448G>T | ENSP00000489431.2:p.Gln1816His | |
| ENST00000644379.2:c.5637G>T | ENSP00000496570.2:p.Gln1879His | |
| ENST00000644555.2:c.2121G>T | ENSP00000494614.2:p.Gln707His | |
| ENST00000652672.2:c.5430G>T | ENSP00000498906.2:p.Gln1810His | |
| ENST00000484087.6:c.2133G>T | ENSP00000419481.2:p.Gln711His | |
| ENST00000700081.1:n.1454G>T | ||
| ENST00000700082.1:n.935G>T | ||
| ENST00000357654.9:c.5571G>T MANE Select | ENSP00000350283.3:p.Gln1857His | |
| ENST00000471181.7:c.5634G>T | ENSP00000418960.2:p.Gln1878His | |
| ENST00000644379.1:c.1958G>T | ||
| ENST00000352993.7:c.2145G>T | ENSP00000312236.5:p.Gln715His | |
| ENST00000357654.7:c.5571G>T | ENSP00000350283.3:p.Gln1857His | |
| ENST00000461221.5:c.*5354G>T | ENSP00000418548.1:n.*5354G>T | |
| ENST00000468300.5:c.*85G>T | ENSP00000417148.1:n.*85G>T | |
| ENST00000471181.6:c.5634G>T | ENSP00000418960.2:p.Gln1878His | |
| ENST00000491747.6:c.2259G>T | ENSP00000420705.2:p.Gln753His | |
| ENST00000493795.5:c.5430G>T | ENSP00000418775.1:p.Gln1810His | |
| ENST00000586385.5:c.501G>T | ENSP00000465818.1:p.Gln167His | |
| ENST00000591534.5:c.1044G>T | ENSP00000467329.1:p.Gln348His | |
| ENST00000591849.5:c.270G>T | ENSP00000465347.1:p.Gln90His | |
| NM_007294.3:c.5571G>T , LRG_292t1:c.5571G>T | NP_009225.1:p.Gln1857His | |
| NM_007297.3:c.5430G>T | NP_009228.2:p.Gln1810His | |
| NM_007298.3:c.2259G>T | NP_009229.2:p.Gln753His | |
| NM_007299.3:c.*85G>T | NP_009230.2:n.*85G>T | |
| NM_007300.3:c.5634G>T | NP_009231.2:p.Gln1878His | |
| NR_027676.1:n.5707G>T | ||
| NM_007294.4:c.5571G>T MANE Select | NP_009225.1:p.Gln1857His | |
| NM_007297.4:c.5430G>T | NP_009228.2:p.Gln1810His | |
| NM_007299.4:c.*85G>T | NP_009230.2:n.*85G>T | |
| NM_007300.4:c.5634G>T | NP_009231.2:p.Gln1878His | |
| NR_027676.2:n.5748G>T |