Linked Data
ClinVar Variation Id:
178202
ClinVar RCV Id:
RCV000154933
RCV000243930
RCV001086769
RCV001133876
RCV001133878
RCV000726451
RCV001133877
RCV001133879
RCV001133880
RCV001170815
RCV001293232
RCV001358656
RCV004544423
dbSNP Id:
rs72646853
ExAC:
2:179452695 C / T
gnomAD v2:
2-179452695-C-T
gnomAD v3:
2-178587968-C-T
gnomAD v4:
2-178587968-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587968C>T , CM000664.2:g.178587968C>T | GRCh38 |
| NC_000002.11:g.179452695C>T , CM000664.1:g.179452695C>T | GRCh37 |
| NC_000002.10:g.179160941C>T | NCBI36 |
| NG_011618.3:g.247835G>A , LRG_391:g.247835G>A | |
| NG_051363.1:g.70142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55735G>A (TTN) | ENSP00000343764.6:p.Ala18579Thr | |
| ENST00000342175.11:c.36820G>A (TTN) | ENSP00000340554.6:p.Ala12274Thr | |
| ENST00000359218.10:c.36619G>A (TTN) | ENSP00000352154.5:p.Ala12207Thr | |
| ENST00000342175.10:c.36820G>A (TTN) | ENSP00000340554.6:p.Ala12274Thr | |
| ENST00000342992.10:c.55735G>A (TTN) | ENSP00000343764.6:p.Ala18579Thr | |
| ENST00000359218.9:c.36619G>A (TTN) | ENSP00000352154.5:p.Ala12207Thr | |
| ENST00000460472.6:c.36244G>A (TTN) | ENSP00000434586.1:p.Ala12082Thr | |
| ENST00000589042.5:c.63439G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala21147Thr | |
| ENST00000591111.5:c.58516G>A (TTN) | ENSP00000465570.1:p.Ala19506Thr | |
| ENST00000615779.4:c.58516G>A (TTN) | ENSP00000483597.1:p.Ala19506Thr | |
| NM_001256850.1:c.58516G>A (TTN) | NP_001243779.1:p.Ala19506Thr | |
| NM_001267550.2:c.63439G>A (TTN) MANE Select | NP_001254479.2:p.Ala21147Thr | |
| NM_003319.4:c.36244G>A (TTN) | NP_003310.4:p.Ala12082Thr | |
| NM_133378.4:c.55735G>A (TTN) | NP_596869.4:p.Ala18579Thr | |
| NM_133432.3:c.36619G>A (TTN) | NP_597676.3:p.Ala12207Thr | |
| NM_133437.4:c.36820G>A (TTN) | NP_597681.4:p.Ala12274Thr | |
| NR_038271.1:n.597-9628C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2975C>T (TTN-AS1) | ||
| XM_011511729.1:c.62536G>A (TTN) | XP_011510031.1:p.Ala20846Thr | |
| XM_011511730.1:c.36430G>A (TTN) | XP_011510032.1:p.Ala12144Thr | |
| XM_011511731.1:c.36289G>A (TTN) | XP_011510033.1:p.Ala12097Thr | |
| XM_017004819.1:c.62332G>A (TTN) | XP_016860308.1:p.Ala20778Thr | |
| XM_017004820.1:c.57730G>A (TTN) | XP_016860309.1:p.Ala19244Thr | |
| XM_017004821.1:c.57727G>A (TTN) | XP_016860310.1:p.Ala19243Thr | |
| XM_017004822.1:c.54769G>A (TTN) | XP_016860311.1:p.Ala18257Thr | |
| XM_017004823.1:c.36385G>A (TTN) | XP_016860312.1:p.Ala12129Thr | |
| XM_024453094.1:c.57880G>A (TTN) | XP_024308862.1:p.Ala19294Thr | |
| XM_024453095.1:c.57877G>A (TTN) | XP_024308863.1:p.Ala19293Thr | |
| XM_024453096.1:c.57310G>A (TTN) | XP_024308864.1:p.Ala19104Thr | |
| XM_024453097.1:c.54652G>A (TTN) | XP_024308865.1:p.Ala18218Thr | |
| XM_024453098.1:c.54571G>A (TTN) | XP_024308866.1:p.Ala18191Thr | |
| XM_024453099.1:c.36334G>A (TTN) | XP_024308867.1:p.Ala12112Thr | |
| XM_024453100.1:c.26188G>A (TTN) | XP_024308868.1:p.Ala8730Thr |