Linked Data
ClinVar Variation Id:
326761
dbSNP Id:
rs565949588
ExAC:
18:42643081 G / A
gnomAD v2:
18-42643081-G-A
gnomAD v3:
18-45063116-G-A
gnomAD v4:
18-45063116-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45063116G>A , CM000680.2:g.45063116G>A | GRCh38 |
| NC_000018.9:g.42643081G>A , CM000680.1:g.42643081G>A | GRCh37 |
| NC_000018.8:g.40897079G>A | NCBI36 |
| NG_027527.1:g.387944G>A | |
| NG_027527.2:g.387944G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649279.2:c.4209G>A MANE Select | ENSP00000497406.1:p.Glu1403= | |
| ENST00000677068.1:c.4209G>A | ENSP00000504398.1:p.Glu1403= | |
| ENST00000677077.1:c.4209G>A | ENSP00000503656.1:p.Glu1403= | |
| ENST00000677130.1:c.4209G>A | ENSP00000503094.1:p.Glu1403= | |
| ENST00000677699.1:c.4038G>A | ENSP00000503964.1:p.Glu1346= | |
| ENST00000678152.1:c.4209G>A | ENSP00000502995.1:p.Glu1403= | |
| ENST00000282030.5:c.4209G>A | ENSP00000282030.5:p.Glu1403= | |
| NM_015559.2:c.4209G>A | NP_056374.2:p.Glu1403= | |
| XM_005258243.3:c.4209G>A | XP_005258300.1:p.Glu1403= | |
| NM_015559.3:c.4209G>A MANE Select | NP_056374.2:p.Glu1403= | |
| XM_024451149.1:c.4287G>A | XP_024306917.1:p.Glu1429= | |
| XM_024451150.1:c.4287G>A | XP_024306918.1:p.Glu1429= | |
| XM_024451151.1:c.4287G>A | XP_024306919.1:p.Glu1429= | |
| XM_024451152.1:c.4287G>A | XP_024306920.1:p.Glu1429= | |
| XM_024451153.1:c.4209G>A | XP_024306921.1:p.Glu1403= | |
| XM_024451154.1:c.4209G>A | XP_024306922.1:p.Glu1403= | |
| XM_024451155.1:c.4209G>A | XP_024306923.1:p.Glu1403= | |
| XM_024451156.1:c.4116G>A | XP_024306924.1:p.Glu1372= | |
| XM_024451157.1:c.3732G>A | XP_024306925.1:p.Glu1244= | |
| NM_001379141.1:c.4209G>A | NP_001366070.1:p.Glu1403= | |
| NM_001379142.1:c.4209G>A | NP_001366071.1:p.Glu1403= |