Linked Data
ClinVar Variation Id:
287178
dbSNP Id:
rs372008124
ExAC:
18:2743761 A / G
gnomAD v2:
18-2743761-A-G
gnomAD v3:
18-2743763-A-G
gnomAD v4:
18-2743763-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2743763A>G , CM000680.2:g.2743763A>G | GRCh38 |
| NC_000018.9:g.2743761A>G , CM000680.1:g.2743761A>G | GRCh37 |
| NC_000018.8:g.2733761A>G | NCBI36 |
| NG_031972.1:g.92876A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583441.2:n.1322A>G | ||
| ENST00000686763.1:c.441A>G | ENSP00000510263.1:p.Glu147= | |
| ENST00000686864.1:c.398A>G | ||
| ENST00000688342.1:c.3636A>G | ENSP00000508422.1:p.Glu1212= | |
| ENST00000688708.1:n.2292A>G | ||
| ENST00000690757.1:n.1093A>G | ||
| ENST00000693213.1:n.2914A>G | ||
| ENST00000320876.11:c.3636A>G MANE Select | ENSP00000326603.7:p.Glu1212= | |
| ENST00000320876.10:c.3636A>G | ENSP00000326603.6:p.Glu1212= | |
| ENST00000577880.5:c.2049A>G | ENSP00000463049.1:p.Glu683= | |
| ENST00000584897.5:c.1456A>G | ||
| NM_015295.2:c.3636A>G | NP_056110.2:p.Glu1212= | |
| XM_011525642.1:c.3636A>G | XP_011523944.1:p.Glu1212= | |
| XM_011525643.1:c.3636A>G | XP_011523945.1:p.Glu1212= | |
| XM_011525644.1:c.3252A>G | XP_011523946.1:p.Glu1084= | |
| XM_011525645.1:c.3072A>G | XP_011523947.1:p.Glu1024= | |
| XM_011525646.1:c.3636A>G | XP_011523948.1:p.Glu1212= | |
| XM_011525647.1:c.3636A>G | XP_011523949.1:p.Glu1212= | |
| XR_430039.1:n.3825A>G | ||
| XR_935054.1:n.3825A>G | ||
| XR_935055.1:n.3825A>G | ||
| XM_011525643.2:c.3636A>G | XP_011523945.1:p.Glu1212= | |
| XM_017025684.1:c.3072A>G | XP_016881173.1:p.Glu1024= | |
| XR_001753172.1:n.3825A>G | ||
| XR_001753173.1:n.3825A>G | ||
| XR_001753174.1:n.3825A>G | ||
| XR_001753175.1:n.3825A>G | ||
| XR_001753176.1:n.3825A>G | ||
| XR_001753177.1:n.3825A>G | ||
| XR_001753178.1:n.3825A>G | ||
| XR_001753179.1:n.3825A>G | ||
| XR_935055.2:n.3825A>G | ||
| NM_015295.3:c.3636A>G MANE Select | NP_056110.2:p.Glu1212= |