Linked Data
ClinVar Variation Id:
47477
ClinVar RCV Id:
RCV000040746
RCV000242549
RCV000262196
RCV000266709
RCV000319678
RCV000354841
RCV000471049
RCV000367586
RCV000768870
RCV000852799
RCV001081488
dbSNP Id:
rs146181116
ExAC:
2:179419792 G / A
gnomAD v2:
2-179419792-G-A
gnomAD v3:
2-178555065-G-A
gnomAD v4:
2-178555065-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178555065G>A , CM000664.2:g.178555065G>A | GRCh38 |
| NC_000002.11:g.179419792G>A , CM000664.1:g.179419792G>A | GRCh37 |
| NC_000002.10:g.179128038G>A | NCBI36 |
| NG_011618.3:g.280738C>T , LRG_391:g.280738C>T | |
| NG_051363.1:g.37239G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80690C>T (TTN) | ENSP00000343764.6:p.Ser26897Phe | |
| ENST00000342175.11:c.61775C>T (TTN) | ENSP00000340554.6:p.Ser20592Phe | |
| ENST00000359218.10:c.61574C>T (TTN) | ENSP00000352154.5:p.Ser20525Phe | |
| ENST00000342175.10:c.61775C>T (TTN) | ENSP00000340554.6:p.Ser20592Phe | |
| ENST00000342992.10:c.80690C>T (TTN) | ENSP00000343764.6:p.Ser26897Phe | |
| ENST00000359218.9:c.61574C>T (TTN) | ENSP00000352154.5:p.Ser20525Phe | |
| ENST00000460472.6:c.61199C>T (TTN) | ENSP00000434586.1:p.Ser20400Phe | |
| ENST00000589042.5:c.88394C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser29465Phe | |
| ENST00000591111.5:c.83471C>T (TTN) | ENSP00000465570.1:p.Ser27824Phe | |
| ENST00000615779.4:c.83471C>T (TTN) | ENSP00000483597.1:p.Ser27824Phe | |
| NM_001256850.1:c.83471C>T (TTN) | NP_001243779.1:p.Ser27824Phe | |
| NM_001267550.2:c.88394C>T (TTN) MANE Select | NP_001254479.2:p.Ser29465Phe | |
| NM_003319.4:c.61199C>T (TTN) | NP_003310.4:p.Ser20400Phe | |
| NM_133378.4:c.80690C>T (TTN) | NP_596869.4:p.Ser26897Phe | |
| NM_133432.3:c.61574C>T (TTN) | NP_597676.3:p.Ser20525Phe | |
| NM_133437.4:c.61775C>T (TTN) | NP_597681.4:p.Ser20592Phe | |
| NR_038271.1:n.447-16235G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+12704G>A (TTN-AS1) | ||
| XM_011511729.1:c.87491C>T (TTN) | XP_011510031.1:p.Ser29164Phe | |
| XM_011511730.1:c.61385C>T (TTN) | XP_011510032.1:p.Ser20462Phe | |
| XM_011511731.1:c.61244C>T (TTN) | XP_011510033.1:p.Ser20415Phe | |
| XM_017004819.1:c.87287C>T (TTN) | XP_016860308.1:p.Ser29096Phe | |
| XM_017004820.1:c.82685C>T (TTN) | XP_016860309.1:p.Ser27562Phe | |
| XM_017004821.1:c.82682C>T (TTN) | XP_016860310.1:p.Ser27561Phe | |
| XM_017004822.1:c.79724C>T (TTN) | XP_016860311.1:p.Ser26575Phe | |
| XM_017004823.1:c.61340C>T (TTN) | XP_016860312.1:p.Ser20447Phe | |
| XM_024453094.1:c.82835C>T (TTN) | XP_024308862.1:p.Ser27612Phe | |
| XM_024453095.1:c.82832C>T (TTN) | XP_024308863.1:p.Ser27611Phe | |
| XM_024453096.1:c.82265C>T (TTN) | XP_024308864.1:p.Ser27422Phe | |
| XM_024453097.1:c.79607C>T (TTN) | XP_024308865.1:p.Ser26536Phe | |
| XM_024453098.1:c.79526C>T (TTN) | XP_024308866.1:p.Ser26509Phe | |
| XM_024453099.1:c.61289C>T (TTN) | XP_024308867.1:p.Ser20430Phe | |
| XM_024453100.1:c.51143C>T (TTN) | XP_024308868.1:p.Ser17048Phe |