Linked Data
ClinVar Variation Id:
55156
dbSNP Id:
rs80357013
ExAC:
17:41234517 G / A
gnomAD v2:
17-41234517-G-A
gnomAD v3:
17-43082500-G-A
gnomAD v4:
17-43082500-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082500G>A , CM000679.2:g.43082500G>A | GRCh38 |
| NC_000017.10:g.41234517G>A , CM000679.1:g.41234517G>A | GRCh37 |
| NC_000017.9:g.38488043G>A | NCBI36 |
| NG_005905.2:g.135484C>T , LRG_292:g.135484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4261C>T | ENSP00000417241.2:p.His1421Tyr | |
| ENST00000470026.6:c.4261C>T | ENSP00000419274.2:p.His1421Tyr | |
| ENST00000473961.6:c.4135C>T | ENSP00000420201.2:p.His1379Tyr | |
| ENST00000476777.6:c.4255C>T | ENSP00000417554.2:p.His1419Tyr | |
| ENST00000477152.6:c.4183C>T | ENSP00000419988.2:p.His1395Tyr | |
| ENST00000478531.6:c.949C>T | ENSP00000420412.2:p.His317Tyr | |
| ENST00000489037.2:c.4183C>T | ENSP00000420781.2:p.His1395Tyr | |
| ENST00000493919.6:c.811C>T | ENSP00000418819.2:p.His271Tyr | |
| ENST00000494123.6:c.4261C>T | ENSP00000419103.2:p.His1421Tyr | |
| ENST00000497488.2:c.3373C>T | ENSP00000418986.2:p.His1125Tyr | |
| ENST00000618469.2:c.4261C>T | ENSP00000478114.2:p.His1421Tyr | |
| ENST00000634433.2:c.4138C>T | ENSP00000489431.2:p.His1380Tyr | |
| ENST00000644379.2:c.4261C>T | ENSP00000496570.2:p.His1421Tyr | |
| ENST00000644555.2:c.811C>T | ENSP00000494614.2:p.His271Tyr | |
| ENST00000652672.2:c.4120C>T | ENSP00000498906.2:p.His1374Tyr | |
| ENST00000484087.6:c.826C>T | ENSP00000419481.2:p.His276Tyr | |
| ENST00000700182.1:c.871C>T | ENSP00000514849.1:p.His291Tyr | |
| ENST00000357654.9:c.4261C>T MANE Select | ENSP00000350283.3:p.His1421Tyr | |
| ENST00000471181.7:c.4261C>T | ENSP00000418960.2:p.His1421Tyr | |
| ENST00000644379.1:c.582C>T | ||
| ENST00000352993.7:c.835C>T | ENSP00000312236.5:p.His279Tyr | |
| ENST00000357654.7:c.4261C>T | ENSP00000350283.3:p.His1421Tyr | |
| ENST00000461221.5:c.*4044C>T | ENSP00000418548.1:n.*4044C>T | |
| ENST00000461574.1:c.555C>T | ||
| ENST00000468300.5:c.952C>T | ENSP00000417148.1:p.His318Tyr | |
| ENST00000471181.6:c.4261C>T | ENSP00000418960.2:p.His1421Tyr | |
| ENST00000478531.5:c.949C>T | ENSP00000420412.1:p.His317Tyr | |
| ENST00000484087.5:c.574C>T | ENSP00000419481.1:p.His192Tyr | |
| ENST00000487825.5:c.577C>T | ENSP00000418212.1:p.His193Tyr | |
| ENST00000491747.6:c.952C>T | ENSP00000420705.2:p.His318Tyr | |
| ENST00000493795.5:c.4120C>T | ENSP00000418775.1:p.His1374Tyr | |
| ENST00000493919.5:c.811C>T | ENSP00000418819.1:p.His271Tyr | |
| ENST00000586385.5:c.5-18549C>T | ENSP00000465818.1:n.5-18549C>T | |
| ENST00000591534.5:c.-43-7979C>T | ENSP00000467329.1:n.-43-7979C>T | |
| ENST00000591849.5:c.-98-32310C>T | ENSP00000465347.1:n.-98-32310C>T | |
| ENST00000621897.1:n.155C>T | ||
| NM_007294.3:c.4261C>T , LRG_292t1:c.4261C>T | NP_009225.1:p.His1421Tyr | |
| NM_007297.3:c.4120C>T | NP_009228.2:p.His1374Tyr | |
| NM_007298.3:c.952C>T | NP_009229.2:p.His318Tyr | |
| NM_007299.3:c.952C>T | NP_009230.2:p.His318Tyr | |
| NM_007300.3:c.4261C>T | NP_009231.2:p.His1421Tyr | |
| NR_027676.1:n.4397C>T | ||
| NM_007294.4:c.4261C>T MANE Select | NP_009225.1:p.His1421Tyr | |
| NM_007297.4:c.4120C>T | NP_009228.2:p.His1374Tyr | |
| NM_007299.4:c.952C>T | NP_009230.2:p.His318Tyr | |
| NM_007300.4:c.4261C>T | NP_009231.2:p.His1421Tyr | |
| NR_027676.2:n.4438C>T |