Linked Data
ClinVar Variation Id:
47567
ClinVar RCV Id:
RCV000040836
RCV000281420
RCV000286881
RCV000341232
RCV000341884
RCV000390449
RCV000619267
RCV000724899
RCV001086828
dbSNP Id:
rs376532382
ExAC:
2:179408637 G / A
gnomAD v2:
2-179408637-G-A
gnomAD v3:
2-178543910-G-A
gnomAD v4:
2-178543910-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543910G>A , CM000664.2:g.178543910G>A | GRCh38 |
| NC_000002.11:g.179408637G>A , CM000664.1:g.179408637G>A | GRCh37 |
| NC_000002.10:g.179116883G>A | NCBI36 |
| NG_011618.3:g.291893C>T , LRG_391:g.291893C>T | |
| NG_051363.1:g.26084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88530C>T (TTN) | ENSP00000343764.6:p.Tyr29510= | |
| ENST00000342175.11:c.69615C>T (TTN) | ENSP00000340554.6:p.Tyr23205= | |
| ENST00000359218.10:c.69414C>T (TTN) | ENSP00000352154.5:p.Tyr23138= | |
| ENST00000342175.10:c.69615C>T (TTN) | ENSP00000340554.6:p.Tyr23205= | |
| ENST00000342992.10:c.88530C>T (TTN) | ENSP00000343764.6:p.Tyr29510= | |
| ENST00000359218.9:c.69414C>T (TTN) | ENSP00000352154.5:p.Tyr23138= | |
| ENST00000460472.6:c.69039C>T (TTN) | ENSP00000434586.1:p.Tyr23013= | |
| ENST00000589042.5:c.96234C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr32078= | |
| ENST00000591111.5:c.91311C>T (TTN) | ENSP00000465570.1:p.Tyr30437= | |
| ENST00000615779.4:c.91311C>T (TTN) | ENSP00000483597.1:p.Tyr30437= | |
| NM_001256850.1:c.91311C>T (TTN) | NP_001243779.1:p.Tyr30437= | |
| NM_001267550.2:c.96234C>T (TTN) MANE Select | NP_001254479.2:p.Tyr32078= | |
| NM_003319.4:c.69039C>T (TTN) | NP_003310.4:p.Tyr23013= | |
| NM_133378.4:c.88530C>T (TTN) | NP_596869.4:p.Tyr29510= | |
| NM_133432.3:c.69414C>T (TTN) | NP_597676.3:p.Tyr23138= | |
| NM_133437.4:c.69615C>T (TTN) | NP_597681.4:p.Tyr23205= | |
| NR_038271.1:n.446+20274G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+1549G>A (TTN-AS1) | ||
| XM_011511729.1:c.95331C>T (TTN) | XP_011510031.1:p.Tyr31777= | |
| XM_011511730.1:c.69225C>T (TTN) | XP_011510032.1:p.Tyr23075= | |
| XM_011511731.1:c.69084C>T (TTN) | XP_011510033.1:p.Tyr23028= | |
| XM_017004819.1:c.95127C>T (TTN) | XP_016860308.1:p.Tyr31709= | |
| XM_017004820.1:c.90525C>T (TTN) | XP_016860309.1:p.Tyr30175= | |
| XM_017004821.1:c.90522C>T (TTN) | XP_016860310.1:p.Tyr30174= | |
| XM_017004822.1:c.87564C>T (TTN) | XP_016860311.1:p.Tyr29188= | |
| XM_017004823.1:c.69180C>T (TTN) | XP_016860312.1:p.Tyr23060= | |
| XM_024453094.1:c.90675C>T (TTN) | XP_024308862.1:p.Tyr30225= | |
| XM_024453095.1:c.90672C>T (TTN) | XP_024308863.1:p.Tyr30224= | |
| XM_024453096.1:c.90105C>T (TTN) | XP_024308864.1:p.Tyr30035= | |
| XM_024453097.1:c.87447C>T (TTN) | XP_024308865.1:p.Tyr29149= | |
| XM_024453098.1:c.87366C>T (TTN) | XP_024308866.1:p.Tyr29122= | |
| XM_024453099.1:c.69129C>T (TTN) | XP_024308867.1:p.Tyr23043= | |
| XM_024453100.1:c.58983C>T (TTN) | XP_024308868.1:p.Tyr19661= |