Linked Data
ClinVar Variation Id:
1246709
dbSNP Id:
rs4147918
ExAC:
19:1058176 A / G
gnomAD v2:
19-1058176-A-G
gnomAD v3:
19-1058177-A-G
gnomAD v4:
19-1058177-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1058177A>G , CM000681.2:g.1058177A>G | GRCh38 |
| NC_000019.9:g.1058176A>G , CM000681.1:g.1058176A>G | GRCh37 |
| NC_000019.8:g.1009176A>G | NCBI36 |
| NG_046909.1:g.23075A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263094.11:c.5057A>G MANE Select | ENSP00000263094.6:p.Gln1686Arg | |
| ENST00000433129.6:n.5357A>G | ||
| ENST00000435683.7:c.2771A>G | ENSP00000465322.2:n.2771A>G | |
| ENST00000529442.7:c.305A>G | ||
| ENST00000532194.3:n.92A>G | ||
| ENST00000673773.1:n.1700A>G | ||
| ENST00000263094.10:c.5057A>G | ENSP00000263094.6:p.Gln1686Arg | |
| ENST00000433129.5:c.5057A>G | ENSP00000414062.1:p.Gln1686Arg | |
| ENST00000435683.6:c.4643A>G | ENSP00000465322.1:p.Gln1548Arg | |
| ENST00000525073.6:c.390A>G | ||
| ENST00000529442.6:c.305A>G | ||
| ENST00000532194.2:n.567A>G | ||
| NM_019112.3:c.5057A>G | NP_061985.2:p.Gln1686Arg | |
| XM_006722616.1:c.5003A>G | XP_006722679.1:p.Gln1668Arg | |
| XM_006722618.2:c.2714A>G | XP_006722681.1:p.Gln905Arg | |
| XM_011527628.1:c.5057A>G | XP_011525930.1:p.Gln1686Arg | |
| XM_011527629.1:c.5030A>G | XP_011525931.1:p.Gln1677Arg | |
| XM_011527630.1:c.4928A>G | XP_011525932.1:p.Gln1643Arg | |
| XM_011527631.1:c.4703-441A>G | XP_011525933.1:n.4703-441A>G | |
| XM_011527632.1:c.4601A>G | XP_011525934.1:p.Gln1534Arg | |
| XM_011527633.1:c.*16A>G | XP_011525935.1:n.*16A>G | |
| XM_011527636.1:c.2714A>G | XP_011525938.1:p.Gln905Arg | |
| XR_936148.1:n.5275A>G | ||
| XR_936149.1:n.5255+20A>G | ||
| XR_936150.1:n.5099-441A>G | ||
| XR_936151.1:n.5097A>G | ||
| XR_936152.1:n.5077+20A>G | ||
| XR_936153.1:n.4952A>G | ||
| XR_936154.1:n.5043A>G | ||
| XM_011527633.2:c.*16A>G | XP_011525935.1:n.*16A>G | |
| XM_017026143.1:c.*66A>G | XP_016881632.1:n.*66A>G | |
| XM_024451315.1:c.5057A>G | XP_024307083.1:p.Gln1686Arg | |
| XM_024451316.1:c.5057A>G | XP_024307084.1:p.Gln1686Arg | |
| XM_024451317.1:c.5030A>G | XP_024307085.1:p.Gln1677Arg | |
| XM_024451318.1:c.5003A>G | XP_024307086.1:p.Gln1668Arg | |
| XM_024451319.1:c.4928A>G | XP_024307087.1:p.Gln1643Arg | |
| XM_024451320.1:c.4802A>G | XP_024307088.1:p.Gln1601Arg | |
| XM_024451321.1:c.4703-441A>G | XP_024307089.1:n.4703-441A>G | |
| XM_024451322.1:c.4601A>G | XP_024307090.1:p.Gln1534Arg | |
| XM_024451323.1:c.5057A>G | XP_024307091.1:p.Gln1686Arg | |
| XM_024451324.1:c.2714A>G | XP_024307092.1:p.Gln905Arg | |
| XM_024451325.1:c.2714A>G | XP_024307093.1:p.Gln905Arg | |
| XR_001753585.1:n.5099-441A>G | ||
| XR_001753586.1:n.5097A>G | ||
| XR_002958240.1:n.5255+20A>G | ||
| XR_002958241.1:n.5099-441A>G | ||
| XR_002958242.1:n.4816+20A>G | ||
| NM_019112.4:c.5057A>G MANE Select | NP_061985.2:p.Gln1686Arg |