Linked Data
ClinVar Variation Id:
166005
ClinVar RCV Id:
RCV000152339
RCV000172664
RCV000276790
RCV000328242
RCV000331815
RCV000382730
RCV000367766
RCV000622012
RCV001086129
RCV001837462
RCV004544373
dbSNP Id:
rs191539637
ExAC:
2:179476242 C / T
gnomAD v2:
2-179476242-C-T
gnomAD v3:
2-178611515-C-T
gnomAD v4:
2-178611515-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611515C>T , CM000664.2:g.178611515C>T | GRCh38 |
| NC_000002.11:g.179476242C>T , CM000664.1:g.179476242C>T | GRCh37 |
| NC_000002.10:g.179184487C>T | NCBI36 |
| NG_011618.3:g.224288G>A , LRG_391:g.224288G>A | |
| NG_051363.1:g.93689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43010G>A (TTN) | ENSP00000343764.6:p.Arg14337His | |
| ENST00000342175.11:c.24095G>A (TTN) | ENSP00000340554.6:p.Arg8032His | |
| ENST00000359218.10:c.23894G>A (TTN) | ENSP00000352154.5:p.Arg7965His | |
| ENST00000342175.10:c.24095G>A (TTN) | ENSP00000340554.6:p.Arg8032His | |
| ENST00000342992.10:c.43010G>A (TTN) | ENSP00000343764.6:p.Arg14337His | |
| ENST00000359218.9:c.23894G>A (TTN) | ENSP00000352154.5:p.Arg7965His | |
| ENST00000460472.6:c.23519G>A (TTN) | ENSP00000434586.1:p.Arg7840His | |
| ENST00000589042.5:c.50714G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16905His | |
| ENST00000591111.5:c.45791G>A (TTN) | ENSP00000465570.1:p.Arg15264His | |
| ENST00000615779.4:c.45791G>A (TTN) | ENSP00000483597.1:p.Arg15264His | |
| NM_001256850.1:c.45791G>A (TTN) | NP_001243779.1:p.Arg15264His | |
| NM_001267550.2:c.50714G>A (TTN) MANE Select | NP_001254479.2:p.Arg16905His | |
| NM_003319.4:c.23519G>A (TTN) | NP_003310.4:p.Arg7840His | |
| NM_133378.4:c.43010G>A (TTN) | NP_596869.4:p.Arg14337His | |
| NM_133432.3:c.23894G>A (TTN) | NP_597676.3:p.Arg7965His | |
| NM_133437.4:c.24095G>A (TTN) | NP_597681.4:p.Arg8032His | |
| NR_038271.1:n.783-2520C>T (TTN-AS1) | ||
| XM_011511729.1:c.49811G>A (TTN) | XP_011510031.1:p.Arg16604His | |
| XM_011511730.1:c.23705G>A (TTN) | XP_011510032.1:p.Arg7902His | |
| XM_011511731.1:c.23564G>A (TTN) | XP_011510033.1:p.Arg7855His | |
| XM_017004819.1:c.49607G>A (TTN) | XP_016860308.1:p.Arg16536His | |
| XM_017004820.1:c.45005G>A (TTN) | XP_016860309.1:p.Arg15002His | |
| XM_017004821.1:c.45002G>A (TTN) | XP_016860310.1:p.Arg15001His | |
| XM_017004822.1:c.42044G>A (TTN) | XP_016860311.1:p.Arg14015His | |
| XM_017004823.1:c.23660G>A (TTN) | XP_016860312.1:p.Arg7887His | |
| XM_024453094.1:c.45155G>A (TTN) | XP_024308862.1:p.Arg15052His | |
| XM_024453095.1:c.45152G>A (TTN) | XP_024308863.1:p.Arg15051His | |
| XM_024453096.1:c.44585G>A (TTN) | XP_024308864.1:p.Arg14862His | |
| XM_024453097.1:c.41927G>A (TTN) | XP_024308865.1:p.Arg13976His | |
| XM_024453098.1:c.41846G>A (TTN) | XP_024308866.1:p.Arg13949His | |
| XM_024453099.1:c.23609G>A (TTN) | XP_024308867.1:p.Arg7870His | |
| XM_024453100.1:c.13463G>A (TTN) | XP_024308868.1:p.Arg4488His |