Linked Data
ClinVar Variation Id:
326724
dbSNP Id:
rs146868426
ExAC:
18:42281452 G / A
gnomAD v2:
18-42281452-G-A
gnomAD v3:
18-44701487-G-A
gnomAD v4:
18-44701487-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.44701487G>A , CM000680.2:g.44701487G>A | GRCh38 |
| NC_000018.9:g.42281452G>A , CM000680.1:g.42281452G>A | GRCh37 |
| NC_000018.8:g.40535450G>A | NCBI36 |
| NG_027527.1:g.26315G>A | |
| NG_027527.2:g.26315G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645568.1:c.141G>A | ENSP00000496513.1:p.Gly47= | |
| ENST00000649279.2:c.141G>A MANE Select | ENSP00000497406.1:p.Gly47= | |
| ENST00000677068.1:c.141G>A | ENSP00000504398.1:p.Gly47= | |
| ENST00000677077.1:c.141G>A | ENSP00000503656.1:p.Gly47= | |
| ENST00000677130.1:c.141G>A | ENSP00000503094.1:p.Gly47= | |
| ENST00000677699.1:c.141G>A | ENSP00000503964.1:p.Gly47= | |
| ENST00000678152.1:c.141G>A | ENSP00000502995.1:p.Gly47= | |
| ENST00000282030.5:c.141G>A | ENSP00000282030.5:p.Gly47= | |
| ENST00000426838.8:c.141G>A | ENSP00000390687.3:p.Gly47= | |
| ENST00000591940.1:c.141G>A | ENSP00000468506.1:p.Gly47= | |
| NM_001130110.1:c.141G>A | NP_001123582.1:p.Gly47= | |
| NM_015559.2:c.141G>A | NP_056374.2:p.Gly47= | |
| XM_005258243.3:c.141G>A | XP_005258300.1:p.Gly47= | |
| NM_015559.3:c.141G>A MANE Select | NP_056374.2:p.Gly47= | |
| XM_024451149.1:c.141G>A | XP_024306917.1:p.Gly47= | |
| XM_024451150.1:c.141G>A | XP_024306918.1:p.Gly47= | |
| XM_024451151.1:c.141G>A | XP_024306919.1:p.Gly47= | |
| XM_024451152.1:c.141G>A | XP_024306920.1:p.Gly47= | |
| XM_024451153.1:c.141G>A | XP_024306921.1:p.Gly47= | |
| XM_024451154.1:c.141G>A | XP_024306922.1:p.Gly47= | |
| XM_024451155.1:c.141G>A | XP_024306923.1:p.Gly47= | |
| XM_024451156.1:c.141G>A | XP_024306924.1:p.Gly47= | |
| XM_024451158.1:c.141G>A | XP_024306926.1:p.Gly47= | |
| NM_001130110.2:c.141G>A | NP_001123582.1:p.Gly47= | |
| NM_001379141.1:c.141G>A | NP_001366070.1:p.Gly47= | |
| NM_001379142.1:c.141G>A | NP_001366071.1:p.Gly47= |