Linked Data
ClinVar Variation Id:
47622
ClinVar RCV Id:
RCV000040891
RCV000242557
RCV000549681
RCV001131863
RCV001131862
RCV001131859
RCV001131860
RCV001131861
RCV000487595
RCV001196003
dbSNP Id:
rs56061641
ExAC:
2:179401845 A / G
gnomAD v2:
2-179401845-A-G
gnomAD v3:
2-178537118-A-G
gnomAD v4:
2-178537118-A-G
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537118A>G , CM000664.2:g.178537118A>G | GRCh38 |
| NC_000002.11:g.179401845A>G , CM000664.1:g.179401845A>G | GRCh37 |
| NC_000002.10:g.179110091A>G | NCBI36 |
| NG_011618.3:g.298685T>C , LRG_391:g.298685T>C | |
| NG_051363.1:g.19292A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92287T>C (TTN) | ENSP00000343764.6:p.Cys30763Arg | |
| ENST00000342175.11:c.73372T>C (TTN) | ENSP00000340554.6:p.Cys24458Arg | |
| ENST00000359218.10:c.73171T>C (TTN) | ENSP00000352154.5:p.Cys24391Arg | |
| ENST00000342175.10:c.73372T>C (TTN) | ENSP00000340554.6:p.Cys24458Arg | |
| ENST00000342992.10:c.92287T>C (TTN) | ENSP00000343764.6:p.Cys30763Arg | |
| ENST00000359218.9:c.73171T>C (TTN) | ENSP00000352154.5:p.Cys24391Arg | |
| ENST00000460472.6:c.72796T>C (TTN) | ENSP00000434586.1:p.Cys24266Arg | |
| ENST00000589042.5:c.99991T>C (TTN) MANE Select | ENSP00000467141.1:p.Cys33331Arg | |
| ENST00000591111.5:c.95068T>C (TTN) | ENSP00000465570.1:p.Cys31690Arg | |
| ENST00000615779.4:c.95068T>C (TTN) | ENSP00000483597.1:p.Cys31690Arg | |
| NM_001256850.1:c.95068T>C (TTN) | NP_001243779.1:p.Cys31690Arg | |
| NM_001267550.2:c.99991T>C (TTN) MANE Select | NP_001254479.2:p.Cys33331Arg | |
| NM_003319.4:c.72796T>C (TTN) | NP_003310.4:p.Cys24266Arg | |
| NM_133378.4:c.92287T>C (TTN) | NP_596869.4:p.Cys30763Arg | |
| NM_133432.3:c.73171T>C (TTN) | NP_597676.3:p.Cys24391Arg | |
| NM_133437.4:c.73372T>C (TTN) | NP_597681.4:p.Cys24458Arg | |
| NR_038271.1:n.446+13482A>G (TTN-AS1) | ||
| NR_038272.1:n.317-243A>G (TTN-AS1) | ||
| XM_011511729.1:c.99088T>C (TTN) | XP_011510031.1:p.Cys33030Arg | |
| XM_011511730.1:c.72982T>C (TTN) | XP_011510032.1:p.Cys24328Arg | |
| XM_011511731.1:c.72841T>C (TTN) | XP_011510033.1:p.Cys24281Arg | |
| XM_017004819.1:c.98884T>C (TTN) | XP_016860308.1:p.Cys32962Arg | |
| XM_017004820.1:c.94282T>C (TTN) | XP_016860309.1:p.Cys31428Arg | |
| XM_017004821.1:c.94279T>C (TTN) | XP_016860310.1:p.Cys31427Arg | |
| XM_017004822.1:c.91321T>C (TTN) | XP_016860311.1:p.Cys30441Arg | |
| XM_017004823.1:c.72937T>C (TTN) | XP_016860312.1:p.Cys24313Arg | |
| XM_024453094.1:c.94432T>C (TTN) | XP_024308862.1:p.Cys31478Arg | |
| XM_024453095.1:c.94429T>C (TTN) | XP_024308863.1:p.Cys31477Arg | |
| XM_024453096.1:c.93862T>C (TTN) | XP_024308864.1:p.Cys31288Arg | |
| XM_024453097.1:c.91204T>C (TTN) | XP_024308865.1:p.Cys30402Arg | |
| XM_024453098.1:c.91123T>C (TTN) | XP_024308866.1:p.Cys30375Arg | |
| XM_024453099.1:c.72886T>C (TTN) | XP_024308867.1:p.Cys24296Arg | |
| XM_024453100.1:c.62740T>C (TTN) | XP_024308868.1:p.Cys20914Arg |