Linked Data
ClinVar Variation Id:
47536
ClinVar RCV Id:
RCV000040805
RCV000233211
RCV000295092
RCV000345296
RCV000350053
RCV000396326
RCV000389462
RCV000768857
RCV000622010
RCV001086039
dbSNP Id:
rs200173934
ExAC:
2:179412453 G / A
gnomAD v2:
2-179412453-G-A
gnomAD v3:
2-178547726-G-A
gnomAD v4:
2-178547726-G-A
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547726G>A , CM000664.2:g.178547726G>A | GRCh38 |
| NC_000002.11:g.179412453G>A , CM000664.1:g.179412453G>A | GRCh37 |
| NC_000002.10:g.179120699G>A | NCBI36 |
| NG_011618.3:g.288077C>T , LRG_391:g.288077C>T | |
| NG_051363.1:g.29900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86196C>T (TTN) | ENSP00000343764.6:p.Ser28732= | |
| ENST00000342175.11:c.67281C>T (TTN) | ENSP00000340554.6:p.Ser22427= | |
| ENST00000359218.10:c.67080C>T (TTN) | ENSP00000352154.5:p.Ser22360= | |
| ENST00000342175.10:c.67281C>T (TTN) | ENSP00000340554.6:p.Ser22427= | |
| ENST00000342992.10:c.86196C>T (TTN) | ENSP00000343764.6:p.Ser28732= | |
| ENST00000359218.9:c.67080C>T (TTN) | ENSP00000352154.5:p.Ser22360= | |
| ENST00000460472.6:c.66705C>T (TTN) | ENSP00000434586.1:p.Ser22235= | |
| ENST00000589042.5:c.93900C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser31300= | |
| ENST00000591111.5:c.88977C>T (TTN) | ENSP00000465570.1:p.Ser29659= | |
| ENST00000615779.4:c.88977C>T (TTN) | ENSP00000483597.1:p.Ser29659= | |
| NM_001256850.1:c.88977C>T (TTN) | NP_001243779.1:p.Ser29659= | |
| NM_001267550.2:c.93900C>T (TTN) MANE Select | NP_001254479.2:p.Ser31300= | |
| NM_003319.4:c.66705C>T (TTN) | NP_003310.4:p.Ser22235= | |
| NM_133378.4:c.86196C>T (TTN) | NP_596869.4:p.Ser28732= | |
| NM_133432.3:c.67080C>T (TTN) | NP_597676.3:p.Ser22360= | |
| NM_133437.4:c.67281C>T (TTN) | NP_597681.4:p.Ser22427= | |
| NR_038271.1:n.447-23574G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+5365G>A (TTN-AS1) | ||
| XM_011511729.1:c.92997C>T (TTN) | XP_011510031.1:p.Ser30999= | |
| XM_011511730.1:c.66891C>T (TTN) | XP_011510032.1:p.Ser22297= | |
| XM_011511731.1:c.66750C>T (TTN) | XP_011510033.1:p.Ser22250= | |
| XM_017004819.1:c.92793C>T (TTN) | XP_016860308.1:p.Ser30931= | |
| XM_017004820.1:c.88191C>T (TTN) | XP_016860309.1:p.Ser29397= | |
| XM_017004821.1:c.88188C>T (TTN) | XP_016860310.1:p.Ser29396= | |
| XM_017004822.1:c.85230C>T (TTN) | XP_016860311.1:p.Ser28410= | |
| XM_017004823.1:c.66846C>T (TTN) | XP_016860312.1:p.Ser22282= | |
| XM_024453094.1:c.88341C>T (TTN) | XP_024308862.1:p.Ser29447= | |
| XM_024453095.1:c.88338C>T (TTN) | XP_024308863.1:p.Ser29446= | |
| XM_024453096.1:c.87771C>T (TTN) | XP_024308864.1:p.Ser29257= | |
| XM_024453097.1:c.85113C>T (TTN) | XP_024308865.1:p.Ser28371= | |
| XM_024453098.1:c.85032C>T (TTN) | XP_024308866.1:p.Ser28344= | |
| XM_024453099.1:c.66795C>T (TTN) | XP_024308867.1:p.Ser22265= | |
| XM_024453100.1:c.56649C>T (TTN) | XP_024308868.1:p.Ser18883= |