Linked Data
ClinVar Variation Id:
202338
dbSNP Id:
rs761050391
ExAC:
2:179406192 G / A
gnomAD v2:
2-179406192-G-A
gnomAD v3:
2-178541465-G-A
gnomAD v4:
2-178541465-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541465G>A , CM000664.2:g.178541465G>A | GRCh38 |
| NC_000002.11:g.179406192G>A , CM000664.1:g.179406192G>A | GRCh37 |
| NC_000002.10:g.179114438G>A | NCBI36 |
| NG_011618.3:g.294338C>T , LRG_391:g.294338C>T | |
| NG_051363.1:g.23639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89908C>T (TTN) | ENSP00000343764.6:p.Arg29970Cys | |
| ENST00000342175.11:c.70993C>T (TTN) | ENSP00000340554.6:p.Arg23665Cys | |
| ENST00000359218.10:c.70792C>T (TTN) | ENSP00000352154.5:p.Arg23598Cys | |
| ENST00000342175.10:c.70993C>T (TTN) | ENSP00000340554.6:p.Arg23665Cys | |
| ENST00000342992.10:c.89908C>T (TTN) | ENSP00000343764.6:p.Arg29970Cys | |
| ENST00000359218.9:c.70792C>T (TTN) | ENSP00000352154.5:p.Arg23598Cys | |
| ENST00000460472.6:c.70417C>T (TTN) | ENSP00000434586.1:p.Arg23473Cys | |
| ENST00000589042.5:c.97612C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32538Cys | |
| ENST00000591111.5:c.92689C>T (TTN) | ENSP00000465570.1:p.Arg30897Cys | |
| ENST00000615779.4:c.92689C>T (TTN) | ENSP00000483597.1:p.Arg30897Cys | |
| NM_001256850.1:c.92689C>T (TTN) | NP_001243779.1:p.Arg30897Cys | |
| NM_001267550.2:c.97612C>T (TTN) MANE Select | NP_001254479.2:p.Arg32538Cys | |
| NM_003319.4:c.70417C>T (TTN) | NP_003310.4:p.Arg23473Cys | |
| NM_133378.4:c.89908C>T (TTN) | NP_596869.4:p.Arg29970Cys | |
| NM_133432.3:c.70792C>T (TTN) | NP_597676.3:p.Arg23598Cys | |
| NM_133437.4:c.70993C>T (TTN) | NP_597681.4:p.Arg23665Cys | |
| NR_038271.1:n.446+17829G>A (TTN-AS1) | ||
| NR_038272.1:n.1904-757G>A (TTN-AS1) | ||
| XM_011511729.1:c.96709C>T (TTN) | XP_011510031.1:p.Arg32237Cys | |
| XM_011511730.1:c.70603C>T (TTN) | XP_011510032.1:p.Arg23535Cys | |
| XM_011511731.1:c.70462C>T (TTN) | XP_011510033.1:p.Arg23488Cys | |
| XM_017004819.1:c.96505C>T (TTN) | XP_016860308.1:p.Arg32169Cys | |
| XM_017004820.1:c.91903C>T (TTN) | XP_016860309.1:p.Arg30635Cys | |
| XM_017004821.1:c.91900C>T (TTN) | XP_016860310.1:p.Arg30634Cys | |
| XM_017004822.1:c.88942C>T (TTN) | XP_016860311.1:p.Arg29648Cys | |
| XM_017004823.1:c.70558C>T (TTN) | XP_016860312.1:p.Arg23520Cys | |
| XM_024453094.1:c.92053C>T (TTN) | XP_024308862.1:p.Arg30685Cys | |
| XM_024453095.1:c.92050C>T (TTN) | XP_024308863.1:p.Arg30684Cys | |
| XM_024453096.1:c.91483C>T (TTN) | XP_024308864.1:p.Arg30495Cys | |
| XM_024453097.1:c.88825C>T (TTN) | XP_024308865.1:p.Arg29609Cys | |
| XM_024453098.1:c.88744C>T (TTN) | XP_024308866.1:p.Arg29582Cys | |
| XM_024453099.1:c.70507C>T (TTN) | XP_024308867.1:p.Arg23503Cys | |
| XM_024453100.1:c.60361C>T (TTN) | XP_024308868.1:p.Arg20121Cys |