Linked Data
ClinVar Variation Id:
229543
ClinVar RCV Id:
RCV000220841
RCV000304616
RCV000401224
RCV000301428
RCV000356180
RCV000340685
RCV000537936
RCV001171246
RCV001574925
RCV002365160
dbSNP Id:
rs570464905
ExAC:
2:179413222 C / A
gnomAD v2:
2-179413222-C-A
gnomAD v3:
2-178548495-C-A
gnomAD v4:
2-178548495-C-A
PubMed:
PMID:25163546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548495C>A , CM000664.2:g.178548495C>A | GRCh38 |
| NC_000002.11:g.179413222C>A , CM000664.1:g.179413222C>A | GRCh37 |
| NC_000002.10:g.179121468C>A | NCBI36 |
| NG_011618.3:g.287308G>T , LRG_391:g.287308G>T | |
| NG_051363.1:g.30669C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85427G>T (TTN) | ENSP00000343764.6:p.Gly28476Val | |
| ENST00000342175.11:c.66512G>T (TTN) | ENSP00000340554.6:p.Gly22171Val | |
| ENST00000359218.10:c.66311G>T (TTN) | ENSP00000352154.5:p.Gly22104Val | |
| ENST00000342175.10:c.66512G>T (TTN) | ENSP00000340554.6:p.Gly22171Val | |
| ENST00000342992.10:c.85427G>T (TTN) | ENSP00000343764.6:p.Gly28476Val | |
| ENST00000359218.9:c.66311G>T (TTN) | ENSP00000352154.5:p.Gly22104Val | |
| ENST00000460472.6:c.65936G>T (TTN) | ENSP00000434586.1:p.Gly21979Val | |
| ENST00000589042.5:c.93131G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly31044Val | |
| ENST00000591111.5:c.88208G>T (TTN) | ENSP00000465570.1:p.Gly29403Val | |
| ENST00000615779.4:c.88208G>T (TTN) | ENSP00000483597.1:p.Gly29403Val | |
| NM_001256850.1:c.88208G>T (TTN) | NP_001243779.1:p.Gly29403Val | |
| NM_001267550.2:c.93131G>T (TTN) MANE Select | NP_001254479.2:p.Gly31044Val | |
| NM_003319.4:c.65936G>T (TTN) | NP_003310.4:p.Gly21979Val | |
| NM_133378.4:c.85427G>T (TTN) | NP_596869.4:p.Gly28476Val | |
| NM_133432.3:c.66311G>T (TTN) | NP_597676.3:p.Gly22104Val | |
| NM_133437.4:c.66512G>T (TTN) | NP_597681.4:p.Gly22171Val | |
| NR_038271.1:n.447-22805C>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6134C>A (TTN-AS1) | ||
| XM_011511729.1:c.92228G>T (TTN) | XP_011510031.1:p.Gly30743Val | |
| XM_011511730.1:c.66122G>T (TTN) | XP_011510032.1:p.Gly22041Val | |
| XM_011511731.1:c.65981G>T (TTN) | XP_011510033.1:p.Gly21994Val | |
| XM_017004819.1:c.92024G>T (TTN) | XP_016860308.1:p.Gly30675Val | |
| XM_017004820.1:c.87422G>T (TTN) | XP_016860309.1:p.Gly29141Val | |
| XM_017004821.1:c.87419G>T (TTN) | XP_016860310.1:p.Gly29140Val | |
| XM_017004822.1:c.84461G>T (TTN) | XP_016860311.1:p.Gly28154Val | |
| XM_017004823.1:c.66077G>T (TTN) | XP_016860312.1:p.Gly22026Val | |
| XM_024453094.1:c.87572G>T (TTN) | XP_024308862.1:p.Gly29191Val | |
| XM_024453095.1:c.87569G>T (TTN) | XP_024308863.1:p.Gly29190Val | |
| XM_024453096.1:c.87002G>T (TTN) | XP_024308864.1:p.Gly29001Val | |
| XM_024453097.1:c.84344G>T (TTN) | XP_024308865.1:p.Gly28115Val | |
| XM_024453098.1:c.84263G>T (TTN) | XP_024308866.1:p.Gly28088Val | |
| XM_024453099.1:c.66026G>T (TTN) | XP_024308867.1:p.Gly22009Val | |
| XM_024453100.1:c.55880G>T (TTN) | XP_024308868.1:p.Gly18627Val |