Linked Data
ClinVar Variation Id:
47508
ClinVar RCV Id:
RCV000040777
RCV000726356
RCV001130186
RCV001130184
RCV001088287
RCV001130183
RCV001130185
RCV001130882
RCV002362642
RCV004541190
dbSNP Id:
rs145133144
ExAC:
2:179415833 G / A
gnomAD v2:
2-179415833-G-A
gnomAD v3:
2-178551106-G-A
gnomAD v4:
2-178551106-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551106G>A , CM000664.2:g.178551106G>A | GRCh38 |
| NC_000002.11:g.179415833G>A , CM000664.1:g.179415833G>A | GRCh37 |
| NC_000002.10:g.179124079G>A | NCBI36 |
| NG_011618.3:g.284697C>T , LRG_391:g.284697C>T | |
| NG_051363.1:g.33280G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83721C>T (TTN) | ENSP00000343764.6:p.Asp27907= | |
| ENST00000342175.11:c.64806C>T (TTN) | ENSP00000340554.6:p.Asp21602= | |
| ENST00000359218.10:c.64605C>T (TTN) | ENSP00000352154.5:p.Asp21535= | |
| ENST00000342175.10:c.64806C>T (TTN) | ENSP00000340554.6:p.Asp21602= | |
| ENST00000342992.10:c.83721C>T (TTN) | ENSP00000343764.6:p.Asp27907= | |
| ENST00000359218.9:c.64605C>T (TTN) | ENSP00000352154.5:p.Asp21535= | |
| ENST00000460472.6:c.64230C>T (TTN) | ENSP00000434586.1:p.Asp21410= | |
| ENST00000589042.5:c.91425C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp30475= | |
| ENST00000591111.5:c.86502C>T (TTN) | ENSP00000465570.1:p.Asp28834= | |
| ENST00000615779.4:c.86502C>T (TTN) | ENSP00000483597.1:p.Asp28834= | |
| NM_001256850.1:c.86502C>T (TTN) | NP_001243779.1:p.Asp28834= | |
| NM_001267550.2:c.91425C>T (TTN) MANE Select | NP_001254479.2:p.Asp30475= | |
| NM_003319.4:c.64230C>T (TTN) | NP_003310.4:p.Asp21410= | |
| NM_133378.4:c.83721C>T (TTN) | NP_596869.4:p.Asp27907= | |
| NM_133432.3:c.64605C>T (TTN) | NP_597676.3:p.Asp21535= | |
| NM_133437.4:c.64806C>T (TTN) | NP_597681.4:p.Asp21602= | |
| NR_038271.1:n.447-20194G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+8745G>A (TTN-AS1) | ||
| XM_011511729.1:c.90522C>T (TTN) | XP_011510031.1:p.Asp30174= | |
| XM_011511730.1:c.64416C>T (TTN) | XP_011510032.1:p.Asp21472= | |
| XM_011511731.1:c.64275C>T (TTN) | XP_011510033.1:p.Asp21425= | |
| XM_017004819.1:c.90318C>T (TTN) | XP_016860308.1:p.Asp30106= | |
| XM_017004820.1:c.85716C>T (TTN) | XP_016860309.1:p.Asp28572= | |
| XM_017004821.1:c.85713C>T (TTN) | XP_016860310.1:p.Asp28571= | |
| XM_017004822.1:c.82755C>T (TTN) | XP_016860311.1:p.Asp27585= | |
| XM_017004823.1:c.64371C>T (TTN) | XP_016860312.1:p.Asp21457= | |
| XM_024453094.1:c.85866C>T (TTN) | XP_024308862.1:p.Asp28622= | |
| XM_024453095.1:c.85863C>T (TTN) | XP_024308863.1:p.Asp28621= | |
| XM_024453096.1:c.85296C>T (TTN) | XP_024308864.1:p.Asp28432= | |
| XM_024453097.1:c.82638C>T (TTN) | XP_024308865.1:p.Asp27546= | |
| XM_024453098.1:c.82557C>T (TTN) | XP_024308866.1:p.Asp27519= | |
| XM_024453099.1:c.64320C>T (TTN) | XP_024308867.1:p.Asp21440= | |
| XM_024453100.1:c.54174C>T (TTN) | XP_024308868.1:p.Asp18058= |