Linked Data
ClinVar Variation Id:
47693
ClinVar RCV Id:
RCV000040962
RCV000205427
RCV000246518
RCV000276660
RCV000334086
RCV000311945
RCV000353762
RCV000398204
RCV000768820
RCV001080769
dbSNP Id:
rs55865284
ExAC:
2:179395813 C / T
gnomAD v2:
2-179395813-C-T
gnomAD v3:
2-178531086-C-T
gnomAD v4:
2-178531086-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531086C>T , CM000664.2:g.178531086C>T | GRCh38 |
| NC_000002.11:g.179395813C>T , CM000664.1:g.179395813C>T | GRCh37 |
| NC_000002.10:g.179104059C>T | NCBI36 |
| NG_011618.3:g.304717G>A , LRG_391:g.304717G>A | |
| NG_051363.1:g.13260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97825G>A (TTN) | ENSP00000343764.6:p.Val32609Met | |
| ENST00000342175.11:c.78910G>A (TTN) | ENSP00000340554.6:p.Val26304Met | |
| ENST00000359218.10:c.78709G>A (TTN) | ENSP00000352154.5:p.Val26237Met | |
| ENST00000342175.10:c.78910G>A (TTN) | ENSP00000340554.6:p.Val26304Met | |
| ENST00000342992.10:c.97825G>A (TTN) | ENSP00000343764.6:p.Val32609Met | |
| ENST00000359218.9:c.78709G>A (TTN) | ENSP00000352154.5:p.Val26237Met | |
| ENST00000460472.6:c.78334G>A (TTN) | ENSP00000434586.1:p.Val26112Met | |
| ENST00000589042.5:c.105529G>A (TTN) MANE Select | ENSP00000467141.1:p.Val35177Met | |
| ENST00000591111.5:c.100606G>A (TTN) | ENSP00000465570.1:p.Val33536Met | |
| ENST00000615779.4:c.100606G>A (TTN) | ENSP00000483597.1:p.Val33536Met | |
| NM_001256850.1:c.100606G>A (TTN) | NP_001243779.1:p.Val33536Met | |
| NM_001267550.2:c.105529G>A (TTN) MANE Select | NP_001254479.2:p.Val35177Met | |
| NM_003319.4:c.78334G>A (TTN) | NP_003310.4:p.Val26112Met | |
| NM_133378.4:c.97825G>A (TTN) | NP_596869.4:p.Val32609Met | |
| NM_133432.3:c.78709G>A (TTN) | NP_597676.3:p.Val26237Met | |
| NM_133437.4:c.78910G>A (TTN) | NP_597681.4:p.Val26304Met | |
| NR_038271.1:n.446+7450C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4646C>T (TTN-AS1) | ||
| XM_011511729.1:c.104626G>A (TTN) | XP_011510031.1:p.Val34876Met | |
| XM_011511730.1:c.78520G>A (TTN) | XP_011510032.1:p.Val26174Met | |
| XM_011511731.1:c.78379G>A (TTN) | XP_011510033.1:p.Val26127Met | |
| XM_017004819.1:c.104422G>A (TTN) | XP_016860308.1:p.Val34808Met | |
| XM_017004820.1:c.99820G>A (TTN) | XP_016860309.1:p.Val33274Met | |
| XM_017004821.1:c.99817G>A (TTN) | XP_016860310.1:p.Val33273Met | |
| XM_017004822.1:c.96859G>A (TTN) | XP_016860311.1:p.Val32287Met | |
| XM_017004823.1:c.78475G>A (TTN) | XP_016860312.1:p.Val26159Met | |
| XM_024453094.1:c.99970G>A (TTN) | XP_024308862.1:p.Val33324Met | |
| XM_024453095.1:c.99967G>A (TTN) | XP_024308863.1:p.Val33323Met | |
| XM_024453096.1:c.99400G>A (TTN) | XP_024308864.1:p.Val33134Met | |
| XM_024453097.1:c.96742G>A (TTN) | XP_024308865.1:p.Val32248Met | |
| XM_024453098.1:c.96661G>A (TTN) | XP_024308866.1:p.Val32221Met | |
| XM_024453099.1:c.78424G>A (TTN) | XP_024308867.1:p.Val26142Met | |
| XM_024453100.1:c.68278G>A (TTN) | XP_024308868.1:p.Val22760Met |