Linked Data
ClinVar Variation Id:
178257
dbSNP Id:
rs201437752
ExAC:
2:179605212 C / T
gnomAD v2:
2-179605212-C-T
gnomAD v3:
2-178740485-C-T
gnomAD v4:
2-178740485-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178740485C>T , CM000664.2:g.178740485C>T | GRCh38 |
| NC_000002.11:g.179605212C>T , CM000664.1:g.179605212C>T | GRCh37 |
| NC_000002.10:g.179313457C>T | NCBI36 |
| NG_011618.3:g.95318G>A , LRG_391:g.95318G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.10361-2125G>A | ENSP00000343764.6:n.10361-2125G>A | |
| ENST00000342175.11:c.12235G>A | ENSP00000340554.6:p.Val4079Met | |
| ENST00000359218.10:c.12034G>A | ENSP00000352154.5:p.Val4012Met | |
| ENST00000342175.10:c.12235G>A | ENSP00000340554.6:p.Val4079Met | |
| ENST00000342992.10:c.10361-2125G>A | ENSP00000343764.6:n.10361-2125G>A | |
| ENST00000359218.9:c.12034G>A | ENSP00000352154.5:p.Val4012Met | |
| ENST00000460472.6:c.11659G>A | ENSP00000434586.1:p.Val3887Met | |
| ENST00000589042.5:c.12748G>A MANE Select | ENSP00000467141.1:p.Val4250Met | |
| ENST00000591111.5:c.11797G>A | ENSP00000465570.1:p.Val3933Met | |
| ENST00000615779.4:c.11797G>A | ENSP00000483597.1:p.Val3933Met | |
| NM_001256850.1:c.11797G>A | NP_001243779.1:p.Val3933Met | |
| NM_001267550.2:c.12748G>A MANE Select | NP_001254479.2:p.Val4250Met | |
| NM_003319.4:c.11659G>A | NP_003310.4:p.Val3887Met | |
| NM_133378.4:c.10361-2125G>A | NP_596869.4:n.10361-2125G>A | |
| NM_133432.3:c.12034G>A | NP_597676.3:p.Val4012Met | |
| NM_133437.4:c.12235G>A | NP_597681.4:p.Val4079Met | |
| XM_011511729.1:c.11845G>A | XP_011510031.1:p.Val3949Met | |
| XM_011511730.1:c.11845G>A | XP_011510032.1:p.Val3949Met | |
| XM_011511731.1:c.11704G>A | XP_011510033.1:p.Val3902Met | |
| XM_017004819.1:c.11800G>A | XP_016860308.1:p.Val3934Met | |
| XM_017004820.1:c.10364-2125G>A | XP_016860309.1:n.10364-2125G>A | |
| XM_017004821.1:c.10361-2125G>A | XP_016860310.1:n.10361-2125G>A | |
| XM_017004822.1:c.11800G>A | XP_016860311.1:p.Val3934Met | |
| XM_017004823.1:c.11800G>A | XP_016860312.1:p.Val3934Met | |
| XM_024453094.1:c.11800G>A | XP_024308862.1:p.Val3934Met | |
| XM_024453095.1:c.11800G>A | XP_024308863.1:p.Val3934Met | |
| XM_024453096.1:c.11800G>A | XP_024308864.1:p.Val3934Met | |
| XM_024453097.1:c.11800G>A | XP_024308865.1:p.Val3934Met | |
| XM_024453098.1:c.11800G>A | XP_024308866.1:p.Val3934Met | |
| XM_024453099.1:c.11800G>A | XP_024308867.1:p.Val3934Met |