Linked Data
ClinVar Variation Id:
192169
ClinVar RCV Id:
RCV000172673
RCV001082763
RCV001701694
RCV001840214
RCV001840215
RCV001840216
RCV001840217
dbSNP Id:
rs201797790
ExAC:
2:179523450 C / T
gnomAD v2:
2-179523450-C-T
gnomAD v3:
2-178658723-C-T
gnomAD v4:
2-178658723-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178658723C>T , CM000664.2:g.178658723C>T | GRCh38 |
| NC_000002.11:g.179523450C>T , CM000664.1:g.179523450C>T | GRCh37 |
| NC_000002.10:g.179231695C>T | NCBI36 |
| NG_011618.3:g.177080G>A , LRG_391:g.177080G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.31741+282G>A | ENSP00000343764.6:n.31741+282G>A | |
| ENST00000342175.11:c.13859-16406G>A | ENSP00000340554.6:n.13859-16406G>A | |
| ENST00000359218.10:c.13658-16406G>A | ENSP00000352154.5:n.13658-16406G>A | |
| ENST00000342175.10:c.13859-16406G>A | ENSP00000340554.6:n.13859-16406G>A | |
| ENST00000342992.10:c.31741+282G>A | ENSP00000343764.6:n.31741+282G>A | |
| ENST00000359218.9:c.13658-16406G>A | ENSP00000352154.5:n.13658-16406G>A | |
| ENST00000414766.5:c.2440+14910G>A | ENSP00000401501.1:n.2440+14910G>A | |
| ENST00000460472.6:c.13283-16406G>A | ENSP00000434586.1:n.13283-16406G>A | |
| ENST00000589042.5:c.37525G>A MANE Select | ENSP00000467141.1:p.Glu12509Lys | |
| ENST00000591111.5:c.34336G>A | ENSP00000465570.1:p.Glu11446Lys | |
| ENST00000615779.4:c.34522+282G>A | ENSP00000483597.1:n.34522+282G>A | |
| NM_001256850.1:c.34522+282G>A | NP_001243779.1:n.34522+282G>A | |
| NM_001267550.2:c.37525G>A MANE Select | NP_001254479.2:p.Glu12509Lys | |
| NM_003319.4:c.13283-16406G>A | NP_003310.4:n.13283-16406G>A | |
| NM_133378.4:c.31741+282G>A | NP_596869.4:n.31741+282G>A | |
| NM_133432.3:c.13658-16406G>A | NP_597676.3:n.13658-16406G>A | |
| NM_133437.4:c.13859-16406G>A | NP_597681.4:n.13859-16406G>A | |
| XM_011511729.1:c.36622G>A | XP_011510031.1:p.Glu12208Lys | |
| XM_011511730.1:c.13469-16406G>A | XP_011510032.1:n.13469-16406G>A | |
| XM_011511731.1:c.13328-16406G>A | XP_011510033.1:n.13328-16406G>A | |
| XM_017004819.1:c.36418G>A | XP_016860308.1:p.Glu12140Lys | |
| XM_017004820.1:c.31816G>A | XP_016860309.1:p.Glu10606Lys | |
| XM_017004821.1:c.31813G>A | XP_016860310.1:p.Glu10605Lys | |
| XM_017004822.1:c.31858+14910G>A | XP_016860311.1:n.31858+14910G>A | |
| XM_017004823.1:c.13424-16406G>A | XP_016860312.1:n.13424-16406G>A | |
| XM_024453094.1:c.33460G>A | XP_024308862.1:p.Glu11154Lys | |
| XM_024453095.1:c.33457G>A | XP_024308863.1:p.Glu11153Lys | |
| XM_024453096.1:c.32890G>A | XP_024308864.1:p.Glu10964Lys | |
| XM_024453097.1:c.31690+14910G>A | XP_024308865.1:n.31690+14910G>A | |
| XM_024453098.1:c.31609+14910G>A | XP_024308866.1:n.31609+14910G>A | |
| XM_024453099.1:c.13424-16406G>A | XP_024308867.1:n.13424-16406G>A | |
| XM_024453100.1:c.274G>A | XP_024308868.1:p.Glu92Lys |