Linked Data
ClinVar Variation Id:
516953
dbSNP Id:
rs72677221
ExAC:
2:179486596 G / T
gnomAD v2:
2-179486596-G-T
gnomAD v3:
2-178621869-G-T
gnomAD v4:
2-178621869-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621869G>T , CM000664.2:g.178621869G>T | GRCh38 |
| NC_000002.11:g.179486596G>T , CM000664.1:g.179486596G>T | GRCh37 |
| NC_000002.10:g.179194841G>T | NCBI36 |
| NG_011618.3:g.213934C>A , LRG_391:g.213934C>A | |
| NG_051363.1:g.104043G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37349C>A | ENSP00000343764.6:p.Ala12450Glu | |
| ENST00000342175.11:c.18434C>A | ENSP00000340554.6:p.Ala6145Glu | |
| ENST00000359218.10:c.18233C>A | ENSP00000352154.5:p.Ala6078Glu | |
| ENST00000342175.10:c.18434C>A | ENSP00000340554.6:p.Ala6145Glu | |
| ENST00000342992.10:c.37349C>A | ENSP00000343764.6:p.Ala12450Glu | |
| ENST00000359218.9:c.18233C>A | ENSP00000352154.5:p.Ala6078Glu | |
| ENST00000460472.6:c.17858C>A | ENSP00000434586.1:p.Ala5953Glu | |
| ENST00000589042.5:c.45053C>A MANE Select | ENSP00000467141.1:p.Ala15018Glu | |
| ENST00000591111.5:c.40130C>A | ENSP00000465570.1:p.Ala13377Glu | |
| ENST00000615779.4:c.40130C>A | ENSP00000483597.1:p.Ala13377Glu | |
| NM_001256850.1:c.40130C>A | NP_001243779.1:p.Ala13377Glu | |
| NM_001267550.2:c.45053C>A MANE Select | NP_001254479.2:p.Ala15018Glu | |
| NM_003319.4:c.17858C>A | NP_003310.4:p.Ala5953Glu | |
| NM_133378.4:c.37349C>A | NP_596869.4:p.Ala12450Glu | |
| NM_133432.3:c.18233C>A | NP_597676.3:p.Ala6078Glu | |
| NM_133437.4:c.18434C>A | NP_597681.4:p.Ala6145Glu | |
| XM_011511729.1:c.44150C>A | XP_011510031.1:p.Ala14717Glu | |
| XM_011511730.1:c.18044C>A | XP_011510032.1:p.Ala6015Glu | |
| XM_011511731.1:c.17903C>A | XP_011510033.1:p.Ala5968Glu | |
| XM_017004819.1:c.43946C>A | XP_016860308.1:p.Ala14649Glu | |
| XM_017004820.1:c.39344C>A | XP_016860309.1:p.Ala13115Glu | |
| XM_017004821.1:c.39341C>A | XP_016860310.1:p.Ala13114Glu | |
| XM_017004822.1:c.36383C>A | XP_016860311.1:p.Ala12128Glu | |
| XM_017004823.1:c.17999C>A | XP_016860312.1:p.Ala6000Glu | |
| XM_024453094.1:c.39494C>A | XP_024308862.1:p.Ala13165Glu | |
| XM_024453095.1:c.39491C>A | XP_024308863.1:p.Ala13164Glu | |
| XM_024453096.1:c.38924C>A | XP_024308864.1:p.Ala12975Glu | |
| XM_024453097.1:c.36266C>A | XP_024308865.1:p.Ala12089Glu | |
| XM_024453098.1:c.36185C>A | XP_024308866.1:p.Ala12062Glu | |
| XM_024453099.1:c.17948C>A | XP_024308867.1:p.Ala5983Glu | |
| XM_024453100.1:c.7802C>A | XP_024308868.1:p.Ala2601Glu |