Linked Data
ClinVar Variation Id:
378816
ClinVar RCV Id:
RCV000422837
RCV000470667
RCV001731674
RCV001840512
RCV001840513
RCV001840514
RCV001840515
RCV002379306
RCV002502486
dbSNP Id:
rs367958537
ExAC:
2:179507007 C / T
gnomAD v2:
2-179507007-C-T
gnomAD v3:
2-178642280-C-T
gnomAD v4:
2-178642280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178642280C>T , CM000664.2:g.178642280C>T | GRCh38 |
| NC_000002.11:g.179507007C>T , CM000664.1:g.179507007C>T | GRCh37 |
| NC_000002.10:g.179215252C>T | NCBI36 |
| NG_011618.3:g.193523G>A , LRG_391:g.193523G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.32811G>A | ENSP00000343764.6:p.Pro10937= | |
| ENST00000342175.11:c.13896G>A | ENSP00000340554.6:p.Pro4632= | |
| ENST00000359218.10:c.13695G>A | ENSP00000352154.5:p.Pro4565= | |
| ENST00000342175.10:c.13896G>A | ENSP00000340554.6:p.Pro4632= | |
| ENST00000342992.10:c.32811G>A | ENSP00000343764.6:p.Pro10937= | |
| ENST00000359218.9:c.13695G>A | ENSP00000352154.5:p.Pro4565= | |
| ENST00000414766.5:c.2478G>A | ENSP00000401501.1:p.Pro826= | |
| ENST00000426232.5:c.597-1650G>A | ||
| ENST00000446966.1:c.995-1650G>A | ENSP00000408004.1:n.995-1650G>A | |
| ENST00000460472.6:c.13320G>A | ENSP00000434586.1:p.Pro4440= | |
| ENST00000589042.5:c.40515G>A MANE Select | ENSP00000467141.1:p.Pro13505= | |
| ENST00000591111.5:c.35592G>A | ENSP00000465570.1:p.Pro11864= | |
| ENST00000615779.4:c.35592G>A | ENSP00000483597.1:p.Pro11864= | |
| NM_001256850.1:c.35592G>A | NP_001243779.1:p.Pro11864= | |
| NM_001267550.2:c.40515G>A MANE Select | NP_001254479.2:p.Pro13505= | |
| NM_003319.4:c.13320G>A | NP_003310.4:p.Pro4440= | |
| NM_133378.4:c.32811G>A | NP_596869.4:p.Pro10937= | |
| NM_133432.3:c.13695G>A | NP_597676.3:p.Pro4565= | |
| NM_133437.4:c.13896G>A | NP_597681.4:p.Pro4632= | |
| XM_011511729.1:c.39612G>A | XP_011510031.1:p.Pro13204= | |
| XM_011511730.1:c.13506G>A | XP_011510032.1:p.Pro4502= | |
| XM_011511731.1:c.13365G>A | XP_011510033.1:p.Pro4455= | |
| XM_017004819.1:c.39408G>A | XP_016860308.1:p.Pro13136= | |
| XM_017004820.1:c.34806G>A | XP_016860309.1:p.Pro11602= | |
| XM_017004821.1:c.34803G>A | XP_016860310.1:p.Pro11601= | |
| XM_017004822.1:c.31896G>A | XP_016860311.1:p.Pro10632= | |
| XM_017004823.1:c.13461G>A | XP_016860312.1:p.Pro4487= | |
| XM_024453094.1:c.34956G>A | XP_024308862.1:p.Pro11652= | |
| XM_024453095.1:c.34953G>A | XP_024308863.1:p.Pro11651= | |
| XM_024453096.1:c.34386G>A | XP_024308864.1:p.Pro11462= | |
| XM_024453097.1:c.31728G>A | XP_024308865.1:p.Pro10576= | |
| XM_024453098.1:c.31647G>A | XP_024308866.1:p.Pro10549= | |
| XM_024453099.1:c.13461G>A | XP_024308867.1:p.Pro4487= | |
| XM_024453100.1:c.3264G>A | XP_024308868.1:p.Pro1088= |