Linked Data
ClinVar Variation Id:
196068
ClinVar RCV Id:
RCV000220460
RCV000302870
RCV000356701
RCV000357762
RCV000402442
RCV000468138
RCV000406858
RCV000769924
RCV002345608
RCV001796725
RCV004537413
dbSNP Id:
rs578191491
ExAC:
2:179427544 T / A
gnomAD v2:
2-179427544-T-A
gnomAD v3:
2-178562817-T-A
gnomAD v4:
2-178562817-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562817T>A , CM000664.2:g.178562817T>A | GRCh38 |
| NC_000002.11:g.179427544T>A , CM000664.1:g.179427544T>A | GRCh37 |
| NC_000002.10:g.179135790T>A | NCBI36 |
| NG_011618.3:g.272986A>T , LRG_391:g.272986A>T | |
| NG_051363.1:g.44991T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75611A>T (TTN) | ENSP00000343764.6:p.Asn25204Ile | |
| ENST00000342175.11:c.56696A>T (TTN) | ENSP00000340554.6:p.Asn18899Ile | |
| ENST00000359218.10:c.56495A>T (TTN) | ENSP00000352154.5:p.Asn18832Ile | |
| ENST00000342175.10:c.56696A>T (TTN) | ENSP00000340554.6:p.Asn18899Ile | |
| ENST00000342992.10:c.75611A>T (TTN) | ENSP00000343764.6:p.Asn25204Ile | |
| ENST00000359218.9:c.56495A>T (TTN) | ENSP00000352154.5:p.Asn18832Ile | |
| ENST00000460472.6:c.56120A>T (TTN) | ENSP00000434586.1:p.Asn18707Ile | |
| ENST00000589042.5:c.83315A>T (TTN) MANE Select | ENSP00000467141.1:p.Asn27772Ile | |
| ENST00000591111.5:c.78392A>T (TTN) | ENSP00000465570.1:p.Asn26131Ile | |
| ENST00000615779.4:c.78392A>T (TTN) | ENSP00000483597.1:p.Asn26131Ile | |
| NM_001256850.1:c.78392A>T (TTN) | NP_001243779.1:p.Asn26131Ile | |
| NM_001267550.2:c.83315A>T (TTN) MANE Select | NP_001254479.2:p.Asn27772Ile | |
| NM_003319.4:c.56120A>T (TTN) | NP_003310.4:p.Asn18707Ile | |
| NM_133378.4:c.75611A>T (TTN) | NP_596869.4:p.Asn25204Ile | |
| NM_133432.3:c.56495A>T (TTN) | NP_597676.3:p.Asn18832Ile | |
| NM_133437.4:c.56696A>T (TTN) | NP_597681.4:p.Asn18899Ile | |
| NR_038271.1:n.447-8483T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-19755T>A (TTN-AS1) | ||
| XM_011511729.1:c.82412A>T (TTN) | XP_011510031.1:p.Asn27471Ile | |
| XM_011511730.1:c.56306A>T (TTN) | XP_011510032.1:p.Asn18769Ile | |
| XM_011511731.1:c.56165A>T (TTN) | XP_011510033.1:p.Asn18722Ile | |
| XM_017004819.1:c.82208A>T (TTN) | XP_016860308.1:p.Asn27403Ile | |
| XM_017004820.1:c.77606A>T (TTN) | XP_016860309.1:p.Asn25869Ile | |
| XM_017004821.1:c.77603A>T (TTN) | XP_016860310.1:p.Asn25868Ile | |
| XM_017004822.1:c.74645A>T (TTN) | XP_016860311.1:p.Asn24882Ile | |
| XM_017004823.1:c.56261A>T (TTN) | XP_016860312.1:p.Asn18754Ile | |
| XM_024453094.1:c.77756A>T (TTN) | XP_024308862.1:p.Asn25919Ile | |
| XM_024453095.1:c.77753A>T (TTN) | XP_024308863.1:p.Asn25918Ile | |
| XM_024453096.1:c.77186A>T (TTN) | XP_024308864.1:p.Asn25729Ile | |
| XM_024453097.1:c.74528A>T (TTN) | XP_024308865.1:p.Asn24843Ile | |
| XM_024453098.1:c.74447A>T (TTN) | XP_024308866.1:p.Asn24816Ile | |
| XM_024453099.1:c.56210A>T (TTN) | XP_024308867.1:p.Asn18737Ile | |
| XM_024453100.1:c.46064A>T (TTN) | XP_024308868.1:p.Asn15355Ile |