Linked Data
ClinVar Variation Id:
46873
ClinVar RCV Id:
RCV000040143
RCV000118748
RCV000245813
RCV000852875
RCV000770067
RCV001134134
RCV001134135
RCV001134137
RCV001081904
RCV001134136
RCV001134138
dbSNP Id:
rs72650031
ExAC:
2:179549407 G / A
gnomAD v2:
2-179549407-G-A
gnomAD v3:
2-178684680-G-A
gnomAD v4:
2-178684680-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178684680G>A , CM000664.2:g.178684680G>A | GRCh38 |
| NC_000002.11:g.179549407G>A , CM000664.1:g.179549407G>A | GRCh37 |
| NC_000002.10:g.179257652G>A | NCBI36 |
| NG_011618.3:g.151123C>T , LRG_391:g.151123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.28892C>T | ENSP00000343764.6:p.Pro9631Leu | |
| ENST00000342175.11:c.13859-42363C>T | ENSP00000340554.6:n.13859-42363C>T | |
| ENST00000359218.10:c.13658-42363C>T | ENSP00000352154.5:n.13658-42363C>T | |
| ENST00000342175.10:c.13859-42363C>T | ENSP00000340554.6:n.13859-42363C>T | |
| ENST00000342992.10:c.28892C>T | ENSP00000343764.6:p.Pro9631Leu | |
| ENST00000359218.9:c.13658-42363C>T | ENSP00000352154.5:n.13658-42363C>T | |
| ENST00000414766.5:c.1730-1777C>T | ENSP00000401501.1:n.1730-1777C>T | |
| ENST00000460472.6:c.13283-42363C>T | ENSP00000434586.1:n.13283-42363C>T | |
| ENST00000589042.5:c.32624C>T MANE Select | ENSP00000467141.1:p.Pro10875Leu | |
| ENST00000591111.5:c.31673C>T | ENSP00000465570.1:p.Pro10558Leu | |
| ENST00000615779.4:c.31673C>T | ENSP00000483597.1:p.Pro10558Leu | |
| NM_001256850.1:c.31673C>T | NP_001243779.1:p.Pro10558Leu | |
| NM_001267550.2:c.32624C>T MANE Select | NP_001254479.2:p.Pro10875Leu | |
| NM_003319.4:c.13283-42363C>T | NP_003310.4:n.13283-42363C>T | |
| NM_133378.4:c.28892C>T | NP_596869.4:p.Pro9631Leu | |
| NM_133432.3:c.13658-42363C>T | NP_597676.3:n.13658-42363C>T | |
| NM_133437.4:c.13859-42363C>T | NP_597681.4:n.13859-42363C>T | |
| XM_011511729.1:c.31721C>T | XP_011510031.1:p.Pro10574Leu | |
| XM_011511730.1:c.13469-42363C>T | XP_011510032.1:n.13469-42363C>T | |
| XM_011511731.1:c.13328-42363C>T | XP_011510033.1:n.13328-42363C>T | |
| XM_017004819.1:c.31676C>T | XP_016860308.1:p.Pro10559Leu | |
| XM_017004820.1:c.28895C>T | XP_016860309.1:p.Pro9632Leu | |
| XM_017004821.1:c.28892C>T | XP_016860310.1:p.Pro9631Leu | |
| XM_017004822.1:c.31148-1777C>T | XP_016860311.1:n.31148-1777C>T | |
| XM_017004823.1:c.13424-42363C>T | XP_016860312.1:n.13424-42363C>T | |
| XM_024453094.1:c.31676C>T | XP_024308862.1:p.Pro10559Leu | |
| XM_024453095.1:c.31676C>T | XP_024308863.1:p.Pro10559Leu | |
| XM_024453096.1:c.31676C>T | XP_024308864.1:p.Pro10559Leu | |
| XM_024453097.1:c.30899-1389C>T | XP_024308865.1:n.30899-1389C>T | |
| XM_024453098.1:c.30899-1777C>T | XP_024308866.1:n.30899-1777C>T | |
| XM_024453099.1:c.13424-42363C>T | XP_024308867.1:n.13424-42363C>T |