Linked Data
ClinVar Variation Id:
179981
ClinVar RCV Id:
RCV000156784
RCV000172640
RCV000284991
RCV000315675
RCV000373849
RCV000340019
RCV000415309
RCV000379391
RCV000643266
RCV002336337
dbSNP Id:
rs201804005
ExAC:
2:179437255 G / T
gnomAD v2:
2-179437255-G-T
gnomAD v3:
2-178572528-G-T
gnomAD v4:
2-178572528-G-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572528G>T , CM000664.2:g.178572528G>T | GRCh38 |
| NC_000002.11:g.179437255G>T , CM000664.1:g.179437255G>T | GRCh37 |
| NC_000002.10:g.179145501G>T | NCBI36 |
| NG_011618.3:g.263275C>A , LRG_391:g.263275C>A | |
| NG_051363.1:g.54702G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65900C>A (TTN) | ENSP00000343764.6:p.Ser21967Tyr | |
| ENST00000342175.11:c.46985C>A (TTN) | ENSP00000340554.6:p.Ser15662Tyr | |
| ENST00000359218.10:c.46784C>A (TTN) | ENSP00000352154.5:p.Ser15595Tyr | |
| ENST00000342175.10:c.46985C>A (TTN) | ENSP00000340554.6:p.Ser15662Tyr | |
| ENST00000342992.10:c.65900C>A (TTN) | ENSP00000343764.6:p.Ser21967Tyr | |
| ENST00000359218.9:c.46784C>A (TTN) | ENSP00000352154.5:p.Ser15595Tyr | |
| ENST00000460472.6:c.46409C>A (TTN) | ENSP00000434586.1:p.Ser15470Tyr | |
| ENST00000589042.5:c.73604C>A (TTN) MANE Select | ENSP00000467141.1:p.Ser24535Tyr | |
| ENST00000591111.5:c.68681C>A (TTN) | ENSP00000465570.1:p.Ser22894Tyr | |
| ENST00000615779.4:c.68681C>A (TTN) | ENSP00000483597.1:p.Ser22894Tyr | |
| NM_001256850.1:c.68681C>A (TTN) | NP_001243779.1:p.Ser22894Tyr | |
| NM_001267550.2:c.73604C>A (TTN) MANE Select | NP_001254479.2:p.Ser24535Tyr | |
| NM_003319.4:c.46409C>A (TTN) | NP_003310.4:p.Ser15470Tyr | |
| NM_133378.4:c.65900C>A (TTN) | NP_596869.4:p.Ser21967Tyr | |
| NM_133432.3:c.46784C>A (TTN) | NP_597676.3:p.Ser15595Tyr | |
| NM_133437.4:c.46985C>A (TTN) | NP_597681.4:p.Ser15662Tyr | |
| NR_038271.1:n.596+1079G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-10044G>T (TTN-AS1) | ||
| XM_011511729.1:c.72701C>A (TTN) | XP_011510031.1:p.Ser24234Tyr | |
| XM_011511730.1:c.46595C>A (TTN) | XP_011510032.1:p.Ser15532Tyr | |
| XM_011511731.1:c.46454C>A (TTN) | XP_011510033.1:p.Ser15485Tyr | |
| XM_017004819.1:c.72497C>A (TTN) | XP_016860308.1:p.Ser24166Tyr | |
| XM_017004820.1:c.67895C>A (TTN) | XP_016860309.1:p.Ser22632Tyr | |
| XM_017004821.1:c.67892C>A (TTN) | XP_016860310.1:p.Ser22631Tyr | |
| XM_017004822.1:c.64934C>A (TTN) | XP_016860311.1:p.Ser21645Tyr | |
| XM_017004823.1:c.46550C>A (TTN) | XP_016860312.1:p.Ser15517Tyr | |
| XM_024453094.1:c.68045C>A (TTN) | XP_024308862.1:p.Ser22682Tyr | |
| XM_024453095.1:c.68042C>A (TTN) | XP_024308863.1:p.Ser22681Tyr | |
| XM_024453096.1:c.67475C>A (TTN) | XP_024308864.1:p.Ser22492Tyr | |
| XM_024453097.1:c.64817C>A (TTN) | XP_024308865.1:p.Ser21606Tyr | |
| XM_024453098.1:c.64736C>A (TTN) | XP_024308866.1:p.Ser21579Tyr | |
| XM_024453099.1:c.46499C>A (TTN) | XP_024308867.1:p.Ser15500Tyr | |
| XM_024453100.1:c.36353C>A (TTN) | XP_024308868.1:p.Ser12118Tyr |