Linked Data
ClinVar Variation Id:
489066
dbSNP Id:
rs1553539391
gnomAD v3:
2-178552203-G-A
gnomAD v4:
2-178552203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552203G>A , CM000664.2:g.178552203G>A | GRCh38 |
| NC_000002.11:g.179416930G>A , CM000664.1:g.179416930G>A | GRCh37 |
| NC_000002.10:g.179125176G>A | NCBI36 |
| NG_011618.3:g.283600C>T , LRG_391:g.283600C>T | |
| NG_051363.1:g.34377G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82993C>T (TTN) | ENSP00000343764.6:p.Arg27665Ter | |
| ENST00000342175.11:c.64078C>T (TTN) | ENSP00000340554.6:p.Arg21360Ter | |
| ENST00000359218.10:c.63877C>T (TTN) | ENSP00000352154.5:p.Arg21293Ter | |
| ENST00000342175.10:c.64078C>T (TTN) | ENSP00000340554.6:p.Arg21360Ter | |
| ENST00000342992.10:c.82993C>T (TTN) | ENSP00000343764.6:p.Arg27665Ter | |
| ENST00000359218.9:c.63877C>T (TTN) | ENSP00000352154.5:p.Arg21293Ter | |
| ENST00000460472.6:c.63502C>T (TTN) | ENSP00000434586.1:p.Arg21168Ter | |
| ENST00000589042.5:c.90697C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg30233Ter | |
| ENST00000591111.5:c.85774C>T (TTN) | ENSP00000465570.1:p.Arg28592Ter | |
| ENST00000615779.4:c.85774C>T (TTN) | ENSP00000483597.1:p.Arg28592Ter | |
| NM_001256850.1:c.85774C>T (TTN) | NP_001243779.1:p.Arg28592Ter | |
| NM_001267550.2:c.90697C>T (TTN) MANE Select | NP_001254479.2:p.Arg30233Ter | |
| NM_003319.4:c.63502C>T (TTN) | NP_003310.4:p.Arg21168Ter | |
| NM_133378.4:c.82993C>T (TTN) | NP_596869.4:p.Arg27665Ter | |
| NM_133432.3:c.63877C>T (TTN) | NP_597676.3:p.Arg21293Ter | |
| NM_133437.4:c.64078C>T (TTN) | NP_597681.4:p.Arg21360Ter | |
| NR_038271.1:n.447-19097G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+9842G>A (TTN-AS1) | ||
| XM_011511729.1:c.89794C>T (TTN) | XP_011510031.1:p.Arg29932Ter | |
| XM_011511730.1:c.63688C>T (TTN) | XP_011510032.1:p.Arg21230Ter | |
| XM_011511731.1:c.63547C>T (TTN) | XP_011510033.1:p.Arg21183Ter | |
| XM_017004819.1:c.89590C>T (TTN) | XP_016860308.1:p.Arg29864Ter | |
| XM_017004820.1:c.84988C>T (TTN) | XP_016860309.1:p.Arg28330Ter | |
| XM_017004821.1:c.84985C>T (TTN) | XP_016860310.1:p.Arg28329Ter | |
| XM_017004822.1:c.82027C>T (TTN) | XP_016860311.1:p.Arg27343Ter | |
| XM_017004823.1:c.63643C>T (TTN) | XP_016860312.1:p.Arg21215Ter | |
| XM_024453094.1:c.85138C>T (TTN) | XP_024308862.1:p.Arg28380Ter | |
| XM_024453095.1:c.85135C>T (TTN) | XP_024308863.1:p.Arg28379Ter | |
| XM_024453096.1:c.84568C>T (TTN) | XP_024308864.1:p.Arg28190Ter | |
| XM_024453097.1:c.81910C>T (TTN) | XP_024308865.1:p.Arg27304Ter | |
| XM_024453098.1:c.81829C>T (TTN) | XP_024308866.1:p.Arg27277Ter | |
| XM_024453099.1:c.63592C>T (TTN) | XP_024308867.1:p.Arg21198Ter | |
| XM_024453100.1:c.53446C>T (TTN) | XP_024308868.1:p.Arg17816Ter |