Linked Data
ClinVar Variation Id:
332706
ClinVar RCV Id:
RCV000286171
RCV000291846
RCV000321215
RCV000378182
RCV000407408
RCV000431706
RCV000726780
RCV001087500
RCV001170522
RCV002374562
dbSNP Id:
rs745708104
ExAC:
2:179402367 G / A
gnomAD v2:
2-179402367-G-A
gnomAD v3:
2-178537640-G-A
gnomAD v4:
2-178537640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537640G>A , CM000664.2:g.178537640G>A | GRCh38 |
| NC_000002.11:g.179402367G>A , CM000664.1:g.179402367G>A | GRCh37 |
| NC_000002.10:g.179110613G>A | NCBI36 |
| NG_011618.3:g.298163C>T , LRG_391:g.298163C>T | |
| NG_051363.1:g.19814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91863C>T (TTN) | ENSP00000343764.6:p.Leu30621= | |
| ENST00000342175.11:c.72948C>T (TTN) | ENSP00000340554.6:p.Leu24316= | |
| ENST00000359218.10:c.72747C>T (TTN) | ENSP00000352154.5:p.Leu24249= | |
| ENST00000342175.10:c.72948C>T (TTN) | ENSP00000340554.6:p.Leu24316= | |
| ENST00000342992.10:c.91863C>T (TTN) | ENSP00000343764.6:p.Leu30621= | |
| ENST00000359218.9:c.72747C>T (TTN) | ENSP00000352154.5:p.Leu24249= | |
| ENST00000460472.6:c.72372C>T (TTN) | ENSP00000434586.1:p.Leu24124= | |
| ENST00000589042.5:c.99567C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu33189= | |
| ENST00000591111.5:c.94644C>T (TTN) | ENSP00000465570.1:p.Leu31548= | |
| ENST00000615779.4:c.94644C>T (TTN) | ENSP00000483597.1:p.Leu31548= | |
| NM_001256850.1:c.94644C>T (TTN) | NP_001243779.1:p.Leu31548= | |
| NM_001267550.2:c.99567C>T (TTN) MANE Select | NP_001254479.2:p.Leu33189= | |
| NM_003319.4:c.72372C>T (TTN) | NP_003310.4:p.Leu24124= | |
| NM_133378.4:c.91863C>T (TTN) | NP_596869.4:p.Leu30621= | |
| NM_133432.3:c.72747C>T (TTN) | NP_597676.3:p.Leu24249= | |
| NM_133437.4:c.72948C>T (TTN) | NP_597681.4:p.Leu24316= | |
| NR_038271.1:n.446+14004G>A (TTN-AS1) | ||
| NR_038272.1:n.596G>A (TTN-AS1) | ||
| XM_011511729.1:c.98664C>T (TTN) | XP_011510031.1:p.Leu32888= | |
| XM_011511730.1:c.72558C>T (TTN) | XP_011510032.1:p.Leu24186= | |
| XM_011511731.1:c.72417C>T (TTN) | XP_011510033.1:p.Leu24139= | |
| XM_017004819.1:c.98460C>T (TTN) | XP_016860308.1:p.Leu32820= | |
| XM_017004820.1:c.93858C>T (TTN) | XP_016860309.1:p.Leu31286= | |
| XM_017004821.1:c.93855C>T (TTN) | XP_016860310.1:p.Leu31285= | |
| XM_017004822.1:c.90897C>T (TTN) | XP_016860311.1:p.Leu30299= | |
| XM_017004823.1:c.72513C>T (TTN) | XP_016860312.1:p.Leu24171= | |
| XM_024453094.1:c.94008C>T (TTN) | XP_024308862.1:p.Leu31336= | |
| XM_024453095.1:c.94005C>T (TTN) | XP_024308863.1:p.Leu31335= | |
| XM_024453096.1:c.93438C>T (TTN) | XP_024308864.1:p.Leu31146= | |
| XM_024453097.1:c.90780C>T (TTN) | XP_024308865.1:p.Leu30260= | |
| XM_024453098.1:c.90699C>T (TTN) | XP_024308866.1:p.Leu30233= | |
| XM_024453099.1:c.72462C>T (TTN) | XP_024308867.1:p.Leu24154= | |
| XM_024453100.1:c.62316C>T (TTN) | XP_024308868.1:p.Leu20772= |