Linked Data
ClinVar Variation Id:
47395
ClinVar RCV Id:
RCV000040665
RCV000620096
RCV000726275
RCV001080788
RCV001131747
RCV001170787
RCV001129079
RCV001129078
RCV001131746
RCV001131748
dbSNP Id:
rs72648212
ExAC:
2:179429754 G / T
gnomAD v2:
2-179429754-G-T
gnomAD v3:
2-178565027-G-T
gnomAD v4:
2-178565027-G-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565027G>T , CM000664.2:g.178565027G>T | GRCh38 |
| NC_000002.11:g.179429754G>T , CM000664.1:g.179429754G>T | GRCh37 |
| NC_000002.10:g.179138000G>T | NCBI36 |
| NG_011618.3:g.270776C>A , LRG_391:g.270776C>A | |
| NG_051363.1:g.47201G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73401C>A (TTN) | ENSP00000343764.6:p.Thr24467= | |
| ENST00000342175.11:c.54486C>A (TTN) | ENSP00000340554.6:p.Thr18162= | |
| ENST00000359218.10:c.54285C>A (TTN) | ENSP00000352154.5:p.Thr18095= | |
| ENST00000342175.10:c.54486C>A (TTN) | ENSP00000340554.6:p.Thr18162= | |
| ENST00000342992.10:c.73401C>A (TTN) | ENSP00000343764.6:p.Thr24467= | |
| ENST00000359218.9:c.54285C>A (TTN) | ENSP00000352154.5:p.Thr18095= | |
| ENST00000460472.6:c.53910C>A (TTN) | ENSP00000434586.1:p.Thr17970= | |
| ENST00000589042.5:c.81105C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr27035= | |
| ENST00000591111.5:c.76182C>A (TTN) | ENSP00000465570.1:p.Thr25394= | |
| ENST00000615779.4:c.76182C>A (TTN) | ENSP00000483597.1:p.Thr25394= | |
| NM_001256850.1:c.76182C>A (TTN) | NP_001243779.1:p.Thr25394= | |
| NM_001267550.2:c.81105C>A (TTN) MANE Select | NP_001254479.2:p.Thr27035= | |
| NM_003319.4:c.53910C>A (TTN) | NP_003310.4:p.Thr17970= | |
| NM_133378.4:c.73401C>A (TTN) | NP_596869.4:p.Thr24467= | |
| NM_133432.3:c.54285C>A (TTN) | NP_597676.3:p.Thr18095= | |
| NM_133437.4:c.54486C>A (TTN) | NP_597681.4:p.Thr18162= | |
| NR_038271.1:n.447-6273G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-17545G>T (TTN-AS1) | ||
| XM_011511729.1:c.80202C>A (TTN) | XP_011510031.1:p.Thr26734= | |
| XM_011511730.1:c.54096C>A (TTN) | XP_011510032.1:p.Thr18032= | |
| XM_011511731.1:c.53955C>A (TTN) | XP_011510033.1:p.Thr17985= | |
| XM_017004819.1:c.79998C>A (TTN) | XP_016860308.1:p.Thr26666= | |
| XM_017004820.1:c.75396C>A (TTN) | XP_016860309.1:p.Thr25132= | |
| XM_017004821.1:c.75393C>A (TTN) | XP_016860310.1:p.Thr25131= | |
| XM_017004822.1:c.72435C>A (TTN) | XP_016860311.1:p.Thr24145= | |
| XM_017004823.1:c.54051C>A (TTN) | XP_016860312.1:p.Thr18017= | |
| XM_024453094.1:c.75546C>A (TTN) | XP_024308862.1:p.Thr25182= | |
| XM_024453095.1:c.75543C>A (TTN) | XP_024308863.1:p.Thr25181= | |
| XM_024453096.1:c.74976C>A (TTN) | XP_024308864.1:p.Thr24992= | |
| XM_024453097.1:c.72318C>A (TTN) | XP_024308865.1:p.Thr24106= | |
| XM_024453098.1:c.72237C>A (TTN) | XP_024308866.1:p.Thr24079= | |
| XM_024453099.1:c.54000C>A (TTN) | XP_024308867.1:p.Thr18000= | |
| XM_024453100.1:c.43854C>A (TTN) | XP_024308868.1:p.Thr14618= |