Linked Data
ClinVar Variation Id:
47544
ClinVar RCV Id:
RCV000040813
RCV000228324
RCV000290312
RCV000341684
RCV000345101
RCV000402372
RCV000397865
RCV000621726
RCV001086327
RCV001171238
dbSNP Id:
rs72648255
ExAC:
2:179411212 G / A
gnomAD v2:
2-179411212-G-A
gnomAD v3:
2-178546485-G-A
gnomAD v4:
2-178546485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546485G>A , CM000664.2:g.178546485G>A | GRCh38 |
| NC_000002.11:g.179411212G>A , CM000664.1:g.179411212G>A | GRCh37 |
| NC_000002.10:g.179119458G>A | NCBI36 |
| NG_011618.3:g.289318C>T , LRG_391:g.289318C>T | |
| NG_051363.1:g.28659G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87142C>T (TTN) | ENSP00000343764.6:p.Leu29048= | |
| ENST00000342175.11:c.68227C>T (TTN) | ENSP00000340554.6:p.Leu22743= | |
| ENST00000359218.10:c.68026C>T (TTN) | ENSP00000352154.5:p.Leu22676= | |
| ENST00000342175.10:c.68227C>T (TTN) | ENSP00000340554.6:p.Leu22743= | |
| ENST00000342992.10:c.87142C>T (TTN) | ENSP00000343764.6:p.Leu29048= | |
| ENST00000359218.9:c.68026C>T (TTN) | ENSP00000352154.5:p.Leu22676= | |
| ENST00000460472.6:c.67651C>T (TTN) | ENSP00000434586.1:p.Leu22551= | |
| ENST00000589042.5:c.94846C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu31616= | |
| ENST00000591111.5:c.89923C>T (TTN) | ENSP00000465570.1:p.Leu29975= | |
| ENST00000615779.4:c.89923C>T (TTN) | ENSP00000483597.1:p.Leu29975= | |
| NM_001256850.1:c.89923C>T (TTN) | NP_001243779.1:p.Leu29975= | |
| NM_001267550.2:c.94846C>T (TTN) MANE Select | NP_001254479.2:p.Leu31616= | |
| NM_003319.4:c.67651C>T (TTN) | NP_003310.4:p.Leu22551= | |
| NM_133378.4:c.87142C>T (TTN) | NP_596869.4:p.Leu29048= | |
| NM_133432.3:c.68026C>T (TTN) | NP_597676.3:p.Leu22676= | |
| NM_133437.4:c.68227C>T (TTN) | NP_597681.4:p.Leu22743= | |
| NR_038271.1:n.446+22849G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+4124G>A (TTN-AS1) | ||
| XM_011511729.1:c.93943C>T (TTN) | XP_011510031.1:p.Leu31315= | |
| XM_011511730.1:c.67837C>T (TTN) | XP_011510032.1:p.Leu22613= | |
| XM_011511731.1:c.67696C>T (TTN) | XP_011510033.1:p.Leu22566= | |
| XM_017004819.1:c.93739C>T (TTN) | XP_016860308.1:p.Leu31247= | |
| XM_017004820.1:c.89137C>T (TTN) | XP_016860309.1:p.Leu29713= | |
| XM_017004821.1:c.89134C>T (TTN) | XP_016860310.1:p.Leu29712= | |
| XM_017004822.1:c.86176C>T (TTN) | XP_016860311.1:p.Leu28726= | |
| XM_017004823.1:c.67792C>T (TTN) | XP_016860312.1:p.Leu22598= | |
| XM_024453094.1:c.89287C>T (TTN) | XP_024308862.1:p.Leu29763= | |
| XM_024453095.1:c.89284C>T (TTN) | XP_024308863.1:p.Leu29762= | |
| XM_024453096.1:c.88717C>T (TTN) | XP_024308864.1:p.Leu29573= | |
| XM_024453097.1:c.86059C>T (TTN) | XP_024308865.1:p.Leu28687= | |
| XM_024453098.1:c.85978C>T (TTN) | XP_024308866.1:p.Leu28660= | |
| XM_024453099.1:c.67741C>T (TTN) | XP_024308867.1:p.Leu22581= | |
| XM_024453100.1:c.57595C>T (TTN) | XP_024308868.1:p.Leu19199= |