Linked Data
ClinVar Variation Id:
285312
dbSNP Id:
rs201071071
ExAC:
18:2771588 A / G
gnomAD v2:
18-2771588-A-G
gnomAD v3:
18-2771590-A-G
gnomAD v4:
18-2771590-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2771590A>G , CM000680.2:g.2771590A>G | GRCh38 |
| NC_000018.9:g.2771588A>G , CM000680.1:g.2771588A>G | GRCh37 |
| NC_000018.8:g.2761588A>G | NCBI36 |
| NG_031972.1:g.120703A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583344.2:n.929A>G | ||
| ENST00000685656.1:n.1512A>G | ||
| ENST00000686763.1:c.*583A>G | ENSP00000510263.1:n.*583A>G | |
| ENST00000686864.1:c.1786A>G | ||
| ENST00000688342.1:c.4892A>G | ENSP00000508422.1:p.His1631Arg | |
| ENST00000688708.1:n.3753A>G | ||
| ENST00000688964.1:n.1724A>G | ||
| ENST00000689034.1:n.2971A>G | ||
| ENST00000693213.1:n.4222A>G | ||
| ENST00000693522.1:n.1565A>G | ||
| ENST00000320876.11:c.5024A>G MANE Select | ENSP00000326603.7:p.His1675Arg | |
| ENST00000645355.1:c.1069A>G | ||
| ENST00000320876.10:c.5024A>G | ENSP00000326603.6:p.His1675Arg | |
| ENST00000577880.5:c.3437A>G | ENSP00000463049.1:p.His1146Arg | |
| ENST00000584897.5:c.2844A>G | ||
| NM_015295.2:c.5024A>G | NP_056110.2:p.His1675Arg | |
| XM_011525642.1:c.5024A>G | XP_011523944.1:p.His1675Arg | |
| XM_011525643.1:c.5024A>G | XP_011523945.1:p.His1675Arg | |
| XM_011525644.1:c.4640A>G | XP_011523946.1:p.His1547Arg | |
| XM_011525645.1:c.4460A>G | XP_011523947.1:p.His1487Arg | |
| XR_430039.1:n.5213A>G | ||
| XR_935054.1:n.5213A>G | ||
| XR_935055.1:n.5213A>G | ||
| XM_011525643.2:c.5024A>G | XP_011523945.1:p.His1675Arg | |
| XM_017025684.1:c.4460A>G | XP_016881173.1:p.His1487Arg | |
| XR_001753172.1:n.5213A>G | ||
| XR_001753173.1:n.5213A>G | ||
| XR_001753174.1:n.5213A>G | ||
| XR_001753175.1:n.5213A>G | ||
| XR_001753176.1:n.5213A>G | ||
| XR_001753177.1:n.5125A>G | ||
| XR_001753178.1:n.5133A>G | ||
| XR_001753179.1:n.5045A>G | ||
| XR_935055.2:n.5213A>G | ||
| NM_015295.3:c.5024A>G MANE Select | NP_056110.2:p.His1675Arg |