Linked Data
ClinVar Variation Id:
282427
dbSNP Id:
rs776794549
ExAC:
18:2796463 G / A
gnomAD v2:
18-2796463-G-A
gnomAD v3:
18-2796465-G-A
gnomAD v4:
18-2796465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2796465G>A , CM000680.2:g.2796465G>A | GRCh38 |
| NC_000018.9:g.2796463G>A , CM000680.1:g.2796463G>A | GRCh37 |
| NC_000018.8:g.2786463G>A | NCBI36 |
| NG_031972.1:g.145578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685656.1:n.2244G>A | ||
| ENST00000686763.1:c.*1496G>A | ENSP00000510263.1:n.*1496G>A | |
| ENST00000686864.1:c.2628G>A | ||
| ENST00000688342.1:c.5805G>A | ENSP00000508422.1:p.Thr1935= | |
| ENST00000688708.1:n.4666G>A | ||
| ENST00000688964.1:n.2446G>A | ||
| ENST00000689034.1:n.3884G>A | ||
| ENST00000689800.1:n.2054G>A | ||
| ENST00000320876.11:c.5937G>A MANE Select | ENSP00000326603.7:p.Thr1979= | |
| ENST00000642953.1:c.839G>A | ||
| ENST00000645355.1:c.1982G>A | ||
| ENST00000320876.10:c.5937G>A | ENSP00000326603.6:p.Thr1979= | |
| ENST00000577880.5:c.4493G>A | ENSP00000463049.1:n.4493G>A | |
| ENST00000583800.1:c.68G>A | ||
| ENST00000584897.5:c.3686G>A | ||
| NM_015295.2:c.5937G>A | NP_056110.2:p.Thr1979= | |
| XM_011525642.1:c.5937G>A | XP_011523944.1:p.Thr1979= | |
| XM_011525643.1:c.5937G>A | XP_011523945.1:p.Thr1979= | |
| XM_011525644.1:c.5553G>A | XP_011523946.1:p.Thr1851= | |
| XM_011525645.1:c.5373G>A | XP_011523947.1:p.Thr1791= | |
| XR_430039.1:n.6055G>A | ||
| XM_011525643.2:c.5937G>A | XP_011523945.1:p.Thr1979= | |
| XM_017025684.1:c.5373G>A | XP_016881173.1:p.Thr1791= | |
| XR_001753172.1:n.6126G>A | ||
| XR_001753173.1:n.6126G>A | ||
| XR_001753174.1:n.6055G>A | ||
| XR_001753175.1:n.6055G>A | ||
| XR_001753176.1:n.5935G>A | ||
| XR_001753177.1:n.6038G>A | ||
| XR_001753178.1:n.5975G>A | ||
| NM_015295.3:c.5937G>A MANE Select | NP_056110.2:p.Thr1979= |