Linked Data
ClinVar Variation Id:
202528
dbSNP Id:
rs781171206
ExAC:
2:179408003 G / A
gnomAD v2:
2-179408003-G-A
gnomAD v4:
2-178543276-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543276G>A , CM000664.2:g.178543276G>A | GRCh38 |
| NC_000002.11:g.179408003G>A , CM000664.1:g.179408003G>A | GRCh37 |
| NC_000002.10:g.179116249G>A | NCBI36 |
| NG_011618.3:g.292527C>T , LRG_391:g.292527C>T | |
| NG_051363.1:g.25450G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88993C>T (TTN) | ENSP00000343764.6:p.Arg29665Ter | |
| ENST00000342175.11:c.70078C>T (TTN) | ENSP00000340554.6:p.Arg23360Ter | |
| ENST00000359218.10:c.69877C>T (TTN) | ENSP00000352154.5:p.Arg23293Ter | |
| ENST00000342175.10:c.70078C>T (TTN) | ENSP00000340554.6:p.Arg23360Ter | |
| ENST00000342992.10:c.88993C>T (TTN) | ENSP00000343764.6:p.Arg29665Ter | |
| ENST00000359218.9:c.69877C>T (TTN) | ENSP00000352154.5:p.Arg23293Ter | |
| ENST00000460472.6:c.69502C>T (TTN) | ENSP00000434586.1:p.Arg23168Ter | |
| ENST00000589042.5:c.96697C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32233Ter | |
| ENST00000591111.5:c.91774C>T (TTN) | ENSP00000465570.1:p.Arg30592Ter | |
| ENST00000615779.4:c.91774C>T (TTN) | ENSP00000483597.1:p.Arg30592Ter | |
| NM_001256850.1:c.91774C>T (TTN) | NP_001243779.1:p.Arg30592Ter | |
| NM_001267550.2:c.96697C>T (TTN) MANE Select | NP_001254479.2:p.Arg32233Ter | |
| NM_003319.4:c.69502C>T (TTN) | NP_003310.4:p.Arg23168Ter | |
| NM_133378.4:c.88993C>T (TTN) | NP_596869.4:p.Arg29665Ter | |
| NM_133432.3:c.69877C>T (TTN) | NP_597676.3:p.Arg23293Ter | |
| NM_133437.4:c.70078C>T (TTN) | NP_597681.4:p.Arg23360Ter | |
| NR_038271.1:n.446+19640G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+915G>A (TTN-AS1) | ||
| XM_011511729.1:c.95794C>T (TTN) | XP_011510031.1:p.Arg31932Ter | |
| XM_011511730.1:c.69688C>T (TTN) | XP_011510032.1:p.Arg23230Ter | |
| XM_011511731.1:c.69547C>T (TTN) | XP_011510033.1:p.Arg23183Ter | |
| XM_017004819.1:c.95590C>T (TTN) | XP_016860308.1:p.Arg31864Ter | |
| XM_017004820.1:c.90988C>T (TTN) | XP_016860309.1:p.Arg30330Ter | |
| XM_017004821.1:c.90985C>T (TTN) | XP_016860310.1:p.Arg30329Ter | |
| XM_017004822.1:c.88027C>T (TTN) | XP_016860311.1:p.Arg29343Ter | |
| XM_017004823.1:c.69643C>T (TTN) | XP_016860312.1:p.Arg23215Ter | |
| XM_024453094.1:c.91138C>T (TTN) | XP_024308862.1:p.Arg30380Ter | |
| XM_024453095.1:c.91135C>T (TTN) | XP_024308863.1:p.Arg30379Ter | |
| XM_024453096.1:c.90568C>T (TTN) | XP_024308864.1:p.Arg30190Ter | |
| XM_024453097.1:c.87910C>T (TTN) | XP_024308865.1:p.Arg29304Ter | |
| XM_024453098.1:c.87829C>T (TTN) | XP_024308866.1:p.Arg29277Ter | |
| XM_024453099.1:c.69592C>T (TTN) | XP_024308867.1:p.Arg23198Ter | |
| XM_024453100.1:c.59446C>T (TTN) | XP_024308868.1:p.Arg19816Ter |