Linked Data
ClinVar Variation Id:
55169
dbSNP Id:
rs4986849
ExAC:
17:41234450 C / T
gnomAD v2:
17-41234450-C-T
gnomAD v3:
17-43082433-C-T
gnomAD v4:
17-43082433-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082433C>T , CM000679.2:g.43082433C>T | GRCh38 |
| NC_000017.10:g.41234450C>T , CM000679.1:g.41234450C>T | GRCh37 |
| NC_000017.9:g.38487976C>T | NCBI36 |
| NG_005905.2:g.135551G>A , LRG_292:g.135551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4328G>A | ENSP00000417241.2:p.Arg1443Gln | |
| ENST00000470026.6:c.4328G>A | ENSP00000419274.2:p.Arg1443Gln | |
| ENST00000473961.6:c.4202G>A | ENSP00000420201.2:p.Arg1401Gln | |
| ENST00000476777.6:c.4322G>A | ENSP00000417554.2:p.Arg1441Gln | |
| ENST00000477152.6:c.4250G>A | ENSP00000419988.2:p.Arg1417Gln | |
| ENST00000478531.6:c.1016G>A | ENSP00000420412.2:p.Arg339Gln | |
| ENST00000489037.2:c.4250G>A | ENSP00000420781.2:p.Arg1417Gln | |
| ENST00000493919.6:c.878G>A | ENSP00000418819.2:p.Arg293Gln | |
| ENST00000494123.6:c.4328G>A | ENSP00000419103.2:p.Arg1443Gln | |
| ENST00000497488.2:c.3440G>A | ENSP00000418986.2:p.Arg1147Gln | |
| ENST00000618469.2:c.4328G>A | ENSP00000478114.2:p.Arg1443Gln | |
| ENST00000634433.2:c.4205G>A | ENSP00000489431.2:p.Arg1402Gln | |
| ENST00000644379.2:c.4328G>A | ENSP00000496570.2:p.Arg1443Gln | |
| ENST00000644555.2:c.878G>A | ENSP00000494614.2:p.Arg293Gln | |
| ENST00000652672.2:c.4187G>A | ENSP00000498906.2:p.Arg1396Gln | |
| ENST00000484087.6:c.893G>A | ENSP00000419481.2:p.Arg298Gln | |
| ENST00000700182.1:c.938G>A | ENSP00000514849.1:p.Arg313Gln | |
| ENST00000357654.9:c.4328G>A MANE Select | ENSP00000350283.3:p.Arg1443Gln | |
| ENST00000471181.7:c.4328G>A | ENSP00000418960.2:p.Arg1443Gln | |
| ENST00000644379.1:c.649G>A | ||
| ENST00000352993.7:c.902G>A | ENSP00000312236.5:p.Arg301Gln | |
| ENST00000357654.7:c.4328G>A | ENSP00000350283.3:p.Arg1443Gln | |
| ENST00000461221.5:c.*4111G>A | ENSP00000418548.1:n.*4111G>A | |
| ENST00000461574.1:c.622G>A | ||
| ENST00000468300.5:c.1019G>A | ENSP00000417148.1:p.Arg340Gln | |
| ENST00000471181.6:c.4328G>A | ENSP00000418960.2:p.Arg1443Gln | |
| ENST00000478531.5:c.1016G>A | ENSP00000420412.1:p.Arg339Gln | |
| ENST00000484087.5:c.641G>A | ENSP00000419481.1:p.Arg214Gln | |
| ENST00000487825.5:c.644G>A | ENSP00000418212.1:p.Arg215Gln | |
| ENST00000491747.6:c.1019G>A | ENSP00000420705.2:p.Arg340Gln | |
| ENST00000493795.5:c.4187G>A | ENSP00000418775.1:p.Arg1396Gln | |
| ENST00000493919.5:c.878G>A | ENSP00000418819.1:p.Arg293Gln | |
| ENST00000586385.5:c.5-18482G>A | ENSP00000465818.1:n.5-18482G>A | |
| ENST00000591534.5:c.-43-7912G>A | ENSP00000467329.1:n.-43-7912G>A | |
| ENST00000591849.5:c.-98-32243G>A | ENSP00000465347.1:n.-98-32243G>A | |
| ENST00000621897.1:n.222G>A | ||
| NM_007294.3:c.4328G>A , LRG_292t1:c.4328G>A | NP_009225.1:p.Arg1443Gln | |
| NM_007297.3:c.4187G>A | NP_009228.2:p.Arg1396Gln | |
| NM_007298.3:c.1019G>A | NP_009229.2:p.Arg340Gln | |
| NM_007299.3:c.1019G>A | NP_009230.2:p.Arg340Gln | |
| NM_007300.3:c.4328G>A | NP_009231.2:p.Arg1443Gln | |
| NR_027676.1:n.4464G>A | ||
| NM_007294.4:c.4328G>A MANE Select | NP_009225.1:p.Arg1443Gln | |
| NM_007297.4:c.4187G>A | NP_009228.2:p.Arg1396Gln | |
| NM_007299.4:c.1019G>A | NP_009230.2:p.Arg340Gln | |
| NM_007300.4:c.4328G>A | NP_009231.2:p.Arg1443Gln | |
| NR_027676.2:n.4505G>A |