Linked Data
ClinVar Variation Id:
415554
dbSNP Id:
rs1060504559
gnomAD v2:
17-41199712-G-A
gnomAD v3:
17-43047695-G-A
gnomAD v4:
17-43047695-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047695G>A , CM000679.2:g.43047695G>A | GRCh38 |
| NC_000017.10:g.41199712G>A , CM000679.1:g.41199712G>A | GRCh37 |
| NC_000017.9:g.38453238G>A | NCBI36 |
| NG_005905.2:g.170289C>T , LRG_292:g.170289C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5412C>T | ENSP00000417241.2:p.His1804= | |
| ENST00000470026.6:c.5415C>T | ENSP00000419274.2:p.His1805= | |
| ENST00000473961.6:c.5289C>T | ENSP00000420201.2:p.His1763= | |
| ENST00000476777.6:c.5409C>T | ENSP00000417554.2:p.His1803= | |
| ENST00000477152.6:c.5337C>T | ENSP00000419988.2:p.His1779= | |
| ENST00000478531.6:c.2103C>T | ENSP00000420412.2:p.His701= | |
| ENST00000489037.2:c.5337C>T | ENSP00000420781.2:p.His1779= | |
| ENST00000493919.6:c.1965C>T | ENSP00000418819.2:p.His655= | |
| ENST00000494123.6:c.5415C>T | ENSP00000419103.2:p.His1805= | |
| ENST00000497488.2:c.4527C>T | ENSP00000418986.2:p.His1509= | |
| ENST00000618469.2:c.5415C>T | ENSP00000478114.2:p.His1805= | |
| ENST00000634433.2:c.5292C>T | ENSP00000489431.2:p.His1764= | |
| ENST00000644379.2:c.5481C>T | ENSP00000496570.2:p.His1827= | |
| ENST00000644555.2:c.1965C>T | ENSP00000494614.2:p.His655= | |
| ENST00000652672.2:c.5274C>T | ENSP00000498906.2:p.His1758= | |
| ENST00000484087.6:c.1977C>T | ENSP00000419481.2:p.His659= | |
| ENST00000700081.1:n.1298C>T | ||
| ENST00000700082.1:n.779C>T | ||
| ENST00000357654.9:c.5415C>T MANE Select | ENSP00000350283.3:p.His1805= | |
| ENST00000471181.7:c.5478C>T | ENSP00000418960.2:p.His1826= | |
| ENST00000644379.1:c.1802C>T | ||
| ENST00000352993.7:c.1989C>T | ENSP00000312236.5:p.His663= | |
| ENST00000357654.7:c.5415C>T | ENSP00000350283.3:p.His1805= | |
| ENST00000461221.5:c.*5198C>T | ENSP00000418548.1:n.*5198C>T | |
| ENST00000468300.5:c.2029C>T | ENSP00000417148.1:p.Pro677Ser | |
| ENST00000471181.6:c.5478C>T | ENSP00000418960.2:p.His1826= | |
| ENST00000491747.6:c.2103C>T | ENSP00000420705.2:p.His701= | |
| ENST00000493795.5:c.5274C>T | ENSP00000418775.1:p.His1758= | |
| ENST00000586385.5:c.345C>T | ENSP00000465818.1:p.His115= | |
| ENST00000591534.5:c.888C>T | ENSP00000467329.1:p.His296= | |
| ENST00000591849.5:c.114C>T | ENSP00000465347.1:p.His38= | |
| NM_007294.3:c.5415C>T , LRG_292t1:c.5415C>T | NP_009225.1:p.His1805= | |
| NM_007297.3:c.5274C>T | NP_009228.2:p.His1758= | |
| NM_007298.3:c.2103C>T | NP_009229.2:p.His701= | |
| NM_007299.3:c.2029C>T | NP_009230.2:p.Pro677Ser | |
| NM_007300.3:c.5478C>T | NP_009231.2:p.His1826= | |
| NR_027676.1:n.5551C>T | ||
| NM_007294.4:c.5415C>T MANE Select | NP_009225.1:p.His1805= | |
| NM_007297.4:c.5274C>T | NP_009228.2:p.His1758= | |
| NM_007299.4:c.2029C>T | NP_009230.2:p.Pro677Ser | |
| NM_007300.4:c.5478C>T | NP_009231.2:p.His1826= | |
| NR_027676.2:n.5592C>T |