Linked Data
ClinVar Variation Id:
466795
dbSNP Id:
rs376000381
ExAC:
2:179605949 T / C
gnomAD v2:
2-179605949-T-C
gnomAD v3:
2-178741222-T-C
gnomAD v4:
2-178741222-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178741222T>C , CM000664.2:g.178741222T>C | GRCh38 |
| NC_000002.11:g.179605949T>C , CM000664.1:g.179605949T>C | GRCh37 |
| NC_000002.10:g.179314194T>C | NCBI36 |
| NG_011618.3:g.94581A>G , LRG_391:g.94581A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.10361-2862A>G | ENSP00000343764.6:n.10361-2862A>G | |
| ENST00000342175.11:c.11498A>G | ENSP00000340554.6:p.Glu3833Gly | |
| ENST00000359218.10:c.11297A>G | ENSP00000352154.5:p.Glu3766Gly | |
| ENST00000342175.10:c.11498A>G | ENSP00000340554.6:p.Glu3833Gly | |
| ENST00000342992.10:c.10361-2862A>G | ENSP00000343764.6:n.10361-2862A>G | |
| ENST00000359218.9:c.11297A>G | ENSP00000352154.5:p.Glu3766Gly | |
| ENST00000460472.6:c.10922A>G | ENSP00000434586.1:p.Glu3641Gly | |
| ENST00000589042.5:c.12011A>G MANE Select | ENSP00000467141.1:p.Glu4004Gly | |
| ENST00000591111.5:c.11060A>G | ENSP00000465570.1:p.Glu3687Gly | |
| ENST00000615779.4:c.11060A>G | ENSP00000483597.1:p.Glu3687Gly | |
| NM_001256850.1:c.11060A>G | NP_001243779.1:p.Glu3687Gly | |
| NM_001267550.2:c.12011A>G MANE Select | NP_001254479.2:p.Glu4004Gly | |
| NM_003319.4:c.10922A>G | NP_003310.4:p.Glu3641Gly | |
| NM_133378.4:c.10361-2862A>G | NP_596869.4:n.10361-2862A>G | |
| NM_133432.3:c.11297A>G | NP_597676.3:p.Glu3766Gly | |
| NM_133437.4:c.11498A>G | NP_597681.4:p.Glu3833Gly | |
| XM_011511729.1:c.11108A>G | XP_011510031.1:p.Glu3703Gly | |
| XM_011511730.1:c.11108A>G | XP_011510032.1:p.Glu3703Gly | |
| XM_011511731.1:c.10967A>G | XP_011510033.1:p.Glu3656Gly | |
| XM_017004819.1:c.11063A>G | XP_016860308.1:p.Glu3688Gly | |
| XM_017004820.1:c.10364-2862A>G | XP_016860309.1:n.10364-2862A>G | |
| XM_017004821.1:c.10361-2862A>G | XP_016860310.1:n.10361-2862A>G | |
| XM_017004822.1:c.11063A>G | XP_016860311.1:p.Glu3688Gly | |
| XM_017004823.1:c.11063A>G | XP_016860312.1:p.Glu3688Gly | |
| XM_024453094.1:c.11063A>G | XP_024308862.1:p.Glu3688Gly | |
| XM_024453095.1:c.11063A>G | XP_024308863.1:p.Glu3688Gly | |
| XM_024453096.1:c.11063A>G | XP_024308864.1:p.Glu3688Gly | |
| XM_024453097.1:c.11063A>G | XP_024308865.1:p.Glu3688Gly | |
| XM_024453098.1:c.11063A>G | XP_024308866.1:p.Glu3688Gly | |
| XM_024453099.1:c.11063A>G | XP_024308867.1:p.Glu3688Gly |