Linked Data
ClinVar Variation Id:
166080
ClinVar RCV Id:
RCV000152359
RCV000172670
RCV001086600
RCV001129205
RCV001131897
RCV001129202
RCV001129203
RCV001129204
RCV003486680
dbSNP Id:
rs148140756
ExAC:
2:179515498 G / A
gnomAD v2:
2-179515498-G-A
gnomAD v3:
2-178650771-G-A
gnomAD v4:
2-178650771-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178650771G>A , CM000664.2:g.178650771G>A | GRCh38 |
| NC_000002.11:g.179515498G>A , CM000664.1:g.179515498G>A | GRCh37 |
| NC_000002.10:g.179223743G>A | NCBI36 |
| NG_011618.3:g.185032C>T , LRG_391:g.185032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32387C>T | ENSP00000343764.6:p.Ala10796Val | |
| ENST00000342175.11:c.13859-8454C>T | ENSP00000340554.6:n.13859-8454C>T | |
| ENST00000359218.10:c.13658-8454C>T | ENSP00000352154.5:n.13658-8454C>T | |
| ENST00000342175.10:c.13859-8454C>T | ENSP00000340554.6:n.13859-8454C>T | |
| ENST00000342992.10:c.32387C>T | ENSP00000343764.6:p.Ala10796Val | |
| ENST00000359218.9:c.13658-8454C>T | ENSP00000352154.5:n.13658-8454C>T | |
| ENST00000414766.5:c.2441-8454C>T | ENSP00000401501.1:n.2441-8454C>T | |
| ENST00000426232.5:c.210C>T | ||
| ENST00000446966.1:c.206C>T | ENSP00000408004.1:p.Ala69Val | |
| ENST00000460472.6:c.13283-8454C>T | ENSP00000434586.1:n.13283-8454C>T | |
| ENST00000589042.5:c.39689C>T MANE Select | ENSP00000467141.1:p.Ala13230Val | |
| ENST00000591111.5:c.35168C>T | ENSP00000465570.1:p.Ala11723Val | |
| ENST00000615779.4:c.35168C>T | ENSP00000483597.1:p.Ala11723Val | |
| NM_001256850.1:c.35168C>T | NP_001243779.1:p.Ala11723Val | |
| NM_001267550.2:c.39689C>T MANE Select | NP_001254479.2:p.Ala13230Val | |
| NM_003319.4:c.13283-8454C>T | NP_003310.4:n.13283-8454C>T | |
| NM_133378.4:c.32387C>T | NP_596869.4:p.Ala10796Val | |
| NM_133432.3:c.13658-8454C>T | NP_597676.3:n.13658-8454C>T | |
| NM_133437.4:c.13859-8454C>T | NP_597681.4:n.13859-8454C>T | |
| XM_011511729.1:c.38786C>T | XP_011510031.1:p.Ala12929Val | |
| XM_011511730.1:c.13469-8454C>T | XP_011510032.1:n.13469-8454C>T | |
| XM_011511731.1:c.13328-8454C>T | XP_011510033.1:n.13328-8454C>T | |
| XM_017004819.1:c.38582C>T | XP_016860308.1:p.Ala12861Val | |
| XM_017004820.1:c.33980C>T | XP_016860309.1:p.Ala11327Val | |
| XM_017004821.1:c.33977C>T | XP_016860310.1:p.Ala11326Val | |
| XM_017004822.1:c.31859-8454C>T | XP_016860311.1:n.31859-8454C>T | |
| XM_017004823.1:c.13424-8454C>T | XP_016860312.1:n.13424-8454C>T | |
| XM_024453094.1:c.34130C>T | XP_024308862.1:p.Ala11377Val | |
| XM_024453095.1:c.34127C>T | XP_024308863.1:p.Ala11376Val | |
| XM_024453096.1:c.33560C>T | XP_024308864.1:p.Ala11187Val | |
| XM_024453097.1:c.31691-8454C>T | XP_024308865.1:n.31691-8454C>T | |
| XM_024453098.1:c.31610-8454C>T | XP_024308866.1:n.31610-8454C>T | |
| XM_024453099.1:c.13424-8454C>T | XP_024308867.1:n.13424-8454C>T | |
| XM_024453100.1:c.2438C>T | XP_024308868.1:p.Ala813Val |