Linked Data
ClinVar Variation Id:
287460
dbSNP Id:
rs144664865
ExAC:
3:47049615 G / A
gnomAD v2:
3-47049615-G-A
gnomAD v3:
3-47008125-G-A
gnomAD v4:
3-47008125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47008125G>A , CM000665.2:g.47008125G>A | GRCh38 |
| NC_000003.11:g.47049615G>A , CM000665.1:g.47049615G>A | GRCh37 |
| NC_000003.10:g.47024619G>A | NCBI36 |
| NG_031914.1:g.33443G>A , LRG_568:g.33443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.7658G>A MANE Select | ENSP00000415034.2:p.Gly2553Glu | |
| ENST00000651453.1:n.2982G>A | ||
| ENST00000651747.1:c.7556G>A | ENSP00000499216.1:p.Gly2519Glu | |
| ENST00000416683.5:c.5521G>A | ||
| ENST00000443829.5:c.2673G>A | ||
| ENST00000450053.7:c.7658G>A | ENSP00000415034.2:p.Gly2553Glu | |
| ENST00000469349.1:n.363G>A | ||
| ENST00000476095.5:n.451G>A | ||
| ENST00000477412.1:n.526G>A | ||
| NM_015175.2:c.7658G>A , LRG_568t1:c.7658G>A | NP_055990.1:p.Gly2553Glu | |
| XM_005264992.2:c.7556G>A | XP_005265049.1:p.Gly2519Glu | |
| XM_005264993.2:c.4130G>A | XP_005265050.1:p.Gly1377Glu | |
| XM_006713072.2:c.7577G>A | XP_006713135.1:p.Gly2526Glu | |
| XM_011533532.1:c.7637G>A | XP_011531834.1:p.Gly2546Glu | |
| XM_011533533.1:c.7568G>A | XP_011531835.1:p.Gly2523Glu | |
| XM_011533534.1:c.7289G>A | XP_011531836.1:p.Gly2430Glu | |
| XM_011533535.1:c.7118G>A | XP_011531837.1:p.Gly2373Glu | |
| XM_011533536.1:c.7004G>A | XP_011531838.1:p.Gly2335Glu | |
| XM_011533537.1:c.6566G>A | XP_011531839.1:p.Gly2189Glu | |
| XR_940397.1:n.7634G>A | ||
| NM_001365116.1:c.7556G>A | NP_001352045.1:p.Gly2519Glu | |
| XM_006713072.3:c.7577G>A | XP_006713135.1:p.Gly2526Glu | |
| XM_011533533.2:c.7568G>A | XP_011531835.1:p.Gly2523Glu | |
| XM_017006010.1:c.7658G>A | XP_016861499.1:p.Gly2553Glu | |
| XM_017006011.1:c.7637G>A | XP_016861500.1:p.Gly2546Glu | |
| XM_017006012.1:c.7577G>A | XP_016861501.1:p.Gly2526Glu | |
| XM_017006013.1:c.7568G>A | XP_016861502.1:p.Gly2523Glu | |
| XM_017006014.1:c.7556G>A | XP_016861503.1:p.Gly2519Glu | |
| XM_017006015.1:c.7289G>A | XP_016861504.1:p.Gly2430Glu | |
| XM_017006016.1:c.7118G>A | XP_016861505.1:p.Gly2373Glu | |
| XM_017006017.1:c.4130G>A | XP_016861506.1:p.Gly1377Glu | |
| XR_940397.2:n.7634G>A | ||
| NM_001365116.2:c.7556G>A | NP_001352045.1:p.Gly2519Glu | |
| NM_015175.3:c.7658G>A MANE Select | NP_055990.1:p.Gly2553Glu |