Linked Data
ClinVar Variation Id:
47484
ClinVar RCV Id:
RCV000040753
RCV000227815
RCV000247074
RCV000271605
RCV000307031
RCV000397839
RCV000351526
RCV000364072
RCV000769894
RCV001795030
RCV004534938
dbSNP Id:
rs115070904
ExAC:
2:179419216 G / A
gnomAD v2:
2-179419216-G-A
gnomAD v3:
2-178554489-G-A
gnomAD v4:
2-178554489-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554489G>A , CM000664.2:g.178554489G>A | GRCh38 |
| NC_000002.11:g.179419216G>A , CM000664.1:g.179419216G>A | GRCh37 |
| NC_000002.10:g.179127462G>A | NCBI36 |
| NG_011618.3:g.281314C>T , LRG_391:g.281314C>T | |
| NG_051363.1:g.36663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81154C>T (TTN) | ENSP00000343764.6:p.Leu27052= | |
| ENST00000342175.11:c.62239C>T (TTN) | ENSP00000340554.6:p.Leu20747= | |
| ENST00000359218.10:c.62038C>T (TTN) | ENSP00000352154.5:p.Leu20680= | |
| ENST00000342175.10:c.62239C>T (TTN) | ENSP00000340554.6:p.Leu20747= | |
| ENST00000342992.10:c.81154C>T (TTN) | ENSP00000343764.6:p.Leu27052= | |
| ENST00000359218.9:c.62038C>T (TTN) | ENSP00000352154.5:p.Leu20680= | |
| ENST00000460472.6:c.61663C>T (TTN) | ENSP00000434586.1:p.Leu20555= | |
| ENST00000589042.5:c.88858C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu29620= | |
| ENST00000591111.5:c.83935C>T (TTN) | ENSP00000465570.1:p.Leu27979= | |
| ENST00000615779.4:c.83935C>T (TTN) | ENSP00000483597.1:p.Leu27979= | |
| NM_001256850.1:c.83935C>T (TTN) | NP_001243779.1:p.Leu27979= | |
| NM_001267550.2:c.88858C>T (TTN) MANE Select | NP_001254479.2:p.Leu29620= | |
| NM_003319.4:c.61663C>T (TTN) | NP_003310.4:p.Leu20555= | |
| NM_133378.4:c.81154C>T (TTN) | NP_596869.4:p.Leu27052= | |
| NM_133432.3:c.62038C>T (TTN) | NP_597676.3:p.Leu20680= | |
| NM_133437.4:c.62239C>T (TTN) | NP_597681.4:p.Leu20747= | |
| NR_038271.1:n.447-16811G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+12128G>A (TTN-AS1) | ||
| XM_011511729.1:c.87955C>T (TTN) | XP_011510031.1:p.Leu29319= | |
| XM_011511730.1:c.61849C>T (TTN) | XP_011510032.1:p.Leu20617= | |
| XM_011511731.1:c.61708C>T (TTN) | XP_011510033.1:p.Leu20570= | |
| XM_017004819.1:c.87751C>T (TTN) | XP_016860308.1:p.Leu29251= | |
| XM_017004820.1:c.83149C>T (TTN) | XP_016860309.1:p.Leu27717= | |
| XM_017004821.1:c.83146C>T (TTN) | XP_016860310.1:p.Leu27716= | |
| XM_017004822.1:c.80188C>T (TTN) | XP_016860311.1:p.Leu26730= | |
| XM_017004823.1:c.61804C>T (TTN) | XP_016860312.1:p.Leu20602= | |
| XM_024453094.1:c.83299C>T (TTN) | XP_024308862.1:p.Leu27767= | |
| XM_024453095.1:c.83296C>T (TTN) | XP_024308863.1:p.Leu27766= | |
| XM_024453096.1:c.82729C>T (TTN) | XP_024308864.1:p.Leu27577= | |
| XM_024453097.1:c.80071C>T (TTN) | XP_024308865.1:p.Leu26691= | |
| XM_024453098.1:c.79990C>T (TTN) | XP_024308866.1:p.Leu26664= | |
| XM_024453099.1:c.61753C>T (TTN) | XP_024308867.1:p.Leu20585= | |
| XM_024453100.1:c.51607C>T (TTN) | XP_024308868.1:p.Leu17203= |