Linked Data
ClinVar Variation Id:
47432
ClinVar RCV Id:
RCV000040701
RCV000172224
RCV001130623
RCV001130624
RCV001130625
RCV001130627
RCV001084560
RCV001130626
RCV003149660
RCV002345324
dbSNP Id:
rs200450022
ExAC:
2:179426596 C / T
gnomAD v2:
2-179426596-C-T
gnomAD v3:
2-178561869-C-T
gnomAD v4:
2-178561869-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561869C>T , CM000664.2:g.178561869C>T | GRCh38 |
| NC_000002.11:g.179426596C>T , CM000664.1:g.179426596C>T | GRCh37 |
| NC_000002.10:g.179134842C>T | NCBI36 |
| NG_011618.3:g.273934G>A , LRG_391:g.273934G>A | |
| NG_051363.1:g.44043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76559G>A (TTN) | ENSP00000343764.6:p.Ser25520Asn | |
| ENST00000342175.11:c.57644G>A (TTN) | ENSP00000340554.6:p.Ser19215Asn | |
| ENST00000359218.10:c.57443G>A (TTN) | ENSP00000352154.5:p.Ser19148Asn | |
| ENST00000342175.10:c.57644G>A (TTN) | ENSP00000340554.6:p.Ser19215Asn | |
| ENST00000342992.10:c.76559G>A (TTN) | ENSP00000343764.6:p.Ser25520Asn | |
| ENST00000359218.9:c.57443G>A (TTN) | ENSP00000352154.5:p.Ser19148Asn | |
| ENST00000460472.6:c.57068G>A (TTN) | ENSP00000434586.1:p.Ser19023Asn | |
| ENST00000589042.5:c.84263G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser28088Asn | |
| ENST00000591111.5:c.79340G>A (TTN) | ENSP00000465570.1:p.Ser26447Asn | |
| ENST00000615779.4:c.79340G>A (TTN) | ENSP00000483597.1:p.Ser26447Asn | |
| NM_001256850.1:c.79340G>A (TTN) | NP_001243779.1:p.Ser26447Asn | |
| NM_001267550.2:c.84263G>A (TTN) MANE Select | NP_001254479.2:p.Ser28088Asn | |
| NM_003319.4:c.57068G>A (TTN) | NP_003310.4:p.Ser19023Asn | |
| NM_133378.4:c.76559G>A (TTN) | NP_596869.4:p.Ser25520Asn | |
| NM_133432.3:c.57443G>A (TTN) | NP_597676.3:p.Ser19148Asn | |
| NM_133437.4:c.57644G>A (TTN) | NP_597681.4:p.Ser19215Asn | |
| NR_038271.1:n.447-9431C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+19508C>T (TTN-AS1) | ||
| XM_011511729.1:c.83360G>A (TTN) | XP_011510031.1:p.Ser27787Asn | |
| XM_011511730.1:c.57254G>A (TTN) | XP_011510032.1:p.Ser19085Asn | |
| XM_011511731.1:c.57113G>A (TTN) | XP_011510033.1:p.Ser19038Asn | |
| XM_017004819.1:c.83156G>A (TTN) | XP_016860308.1:p.Ser27719Asn | |
| XM_017004820.1:c.78554G>A (TTN) | XP_016860309.1:p.Ser26185Asn | |
| XM_017004821.1:c.78551G>A (TTN) | XP_016860310.1:p.Ser26184Asn | |
| XM_017004822.1:c.75593G>A (TTN) | XP_016860311.1:p.Ser25198Asn | |
| XM_017004823.1:c.57209G>A (TTN) | XP_016860312.1:p.Ser19070Asn | |
| XM_024453094.1:c.78704G>A (TTN) | XP_024308862.1:p.Ser26235Asn | |
| XM_024453095.1:c.78701G>A (TTN) | XP_024308863.1:p.Ser26234Asn | |
| XM_024453096.1:c.78134G>A (TTN) | XP_024308864.1:p.Ser26045Asn | |
| XM_024453097.1:c.75476G>A (TTN) | XP_024308865.1:p.Ser25159Asn | |
| XM_024453098.1:c.75395G>A (TTN) | XP_024308866.1:p.Ser25132Asn | |
| XM_024453099.1:c.57158G>A (TTN) | XP_024308867.1:p.Ser19053Asn | |
| XM_024453100.1:c.47012G>A (TTN) | XP_024308868.1:p.Ser15671Asn |