Linked Data
ClinVar Variation Id:
535435
dbSNP Id:
rs1393076582
gnomAD v2:
2-179505355-G-T
gnomAD v3:
2-178640628-G-T
gnomAD v4:
2-178640628-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178640628G>T , CM000664.2:g.178640628G>T | GRCh38 |
| NC_000002.11:g.179505355G>T , CM000664.1:g.179505355G>T | GRCh37 |
| NC_000002.10:g.179213600G>T | NCBI36 |
| NG_011618.3:g.195175C>A , LRG_391:g.195175C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32932C>A | ENSP00000343764.6:p.Pro10978Thr | |
| ENST00000342175.11:c.14017C>A | ENSP00000340554.6:p.Pro4673Thr | |
| ENST00000359218.10:c.13816C>A | ENSP00000352154.5:p.Pro4606Thr | |
| ENST00000342175.10:c.14017C>A | ENSP00000340554.6:p.Pro4673Thr | |
| ENST00000342992.10:c.32932C>A | ENSP00000343764.6:p.Pro10978Thr | |
| ENST00000359218.9:c.13816C>A | ENSP00000352154.5:p.Pro4606Thr | |
| ENST00000414766.5:c.2599C>A | ENSP00000401501.1:p.Pro867Thr | |
| ENST00000426232.5:c.599C>A | ||
| ENST00000446966.1:c.997C>A | ENSP00000408004.1:p.Pro333Thr | |
| ENST00000460472.6:c.13441C>A | ENSP00000434586.1:p.Pro4481Thr | |
| ENST00000589042.5:c.40636C>A MANE Select | ENSP00000467141.1:p.Pro13546Thr | |
| ENST00000591111.5:c.35713C>A | ENSP00000465570.1:p.Pro11905Thr | |
| ENST00000615779.4:c.35713C>A | ENSP00000483597.1:p.Pro11905Thr | |
| NM_001256850.1:c.35713C>A | NP_001243779.1:p.Pro11905Thr | |
| NM_001267550.2:c.40636C>A MANE Select | NP_001254479.2:p.Pro13546Thr | |
| NM_003319.4:c.13441C>A | NP_003310.4:p.Pro4481Thr | |
| NM_133378.4:c.32932C>A | NP_596869.4:p.Pro10978Thr | |
| NM_133432.3:c.13816C>A | NP_597676.3:p.Pro4606Thr | |
| NM_133437.4:c.14017C>A | NP_597681.4:p.Pro4673Thr | |
| XM_011511729.1:c.39733C>A | XP_011510031.1:p.Pro13245Thr | |
| XM_011511730.1:c.13627C>A | XP_011510032.1:p.Pro4543Thr | |
| XM_011511731.1:c.13486C>A | XP_011510033.1:p.Pro4496Thr | |
| XM_017004819.1:c.39529C>A | XP_016860308.1:p.Pro13177Thr | |
| XM_017004820.1:c.34927C>A | XP_016860309.1:p.Pro11643Thr | |
| XM_017004821.1:c.34924C>A | XP_016860310.1:p.Pro11642Thr | |
| XM_017004822.1:c.32017C>A | XP_016860311.1:p.Pro10673Thr | |
| XM_017004823.1:c.13582C>A | XP_016860312.1:p.Pro4528Thr | |
| XM_024453094.1:c.35077C>A | XP_024308862.1:p.Pro11693Thr | |
| XM_024453095.1:c.35074C>A | XP_024308863.1:p.Pro11692Thr | |
| XM_024453096.1:c.34507C>A | XP_024308864.1:p.Pro11503Thr | |
| XM_024453097.1:c.31849C>A | XP_024308865.1:p.Pro10617Thr | |
| XM_024453098.1:c.31768C>A | XP_024308866.1:p.Pro10590Thr | |
| XM_024453099.1:c.13582C>A | XP_024308867.1:p.Pro4528Thr | |
| XM_024453100.1:c.3385C>A | XP_024308868.1:p.Pro1129Thr |