Linked Data
ClinVar Variation Id:
178162
ClinVar RCV Id:
RCV000154880
RCV000251384
RCV000347379
RCV000289024
RCV000344022
RCV000408192
RCV000383410
RCV000725315
RCV001082468
RCV003149941
dbSNP Id:
rs368686031
ExAC:
2:179403394 C / T
gnomAD v2:
2-179403394-C-T
gnomAD v3:
2-178538667-C-T
gnomAD v4:
2-178538667-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178538667C>T , CM000664.2:g.178538667C>T | GRCh38 |
| NC_000002.11:g.179403394C>T , CM000664.1:g.179403394C>T | GRCh37 |
| NC_000002.10:g.179111640C>T | NCBI36 |
| NG_011618.3:g.297136G>A , LRG_391:g.297136G>A | |
| NG_051363.1:g.20841C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91458G>A (TTN) | ENSP00000343764.6:p.Lys30486= | |
| ENST00000342175.11:c.72543G>A (TTN) | ENSP00000340554.6:p.Lys24181= | |
| ENST00000359218.10:c.72342G>A (TTN) | ENSP00000352154.5:p.Lys24114= | |
| ENST00000342175.10:c.72543G>A (TTN) | ENSP00000340554.6:p.Lys24181= | |
| ENST00000342992.10:c.91458G>A (TTN) | ENSP00000343764.6:p.Lys30486= | |
| ENST00000359218.9:c.72342G>A (TTN) | ENSP00000352154.5:p.Lys24114= | |
| ENST00000460472.6:c.71967G>A (TTN) | ENSP00000434586.1:p.Lys23989= | |
| ENST00000589042.5:c.99162G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys33054= | |
| ENST00000591111.5:c.94239G>A (TTN) | ENSP00000465570.1:p.Lys31413= | |
| ENST00000615779.4:c.94239G>A (TTN) | ENSP00000483597.1:p.Lys31413= | |
| NM_001256850.1:c.94239G>A (TTN) | NP_001243779.1:p.Lys31413= | |
| NM_001267550.2:c.99162G>A (TTN) MANE Select | NP_001254479.2:p.Lys33054= | |
| NM_003319.4:c.71967G>A (TTN) | NP_003310.4:p.Lys23989= | |
| NM_133378.4:c.91458G>A (TTN) | NP_596869.4:p.Lys30486= | |
| NM_133432.3:c.72342G>A (TTN) | NP_597676.3:p.Lys24114= | |
| NM_133437.4:c.72543G>A (TTN) | NP_597681.4:p.Lys24181= | |
| NR_038271.1:n.446+15031C>T (TTN-AS1) | ||
| NR_038272.1:n.648-31C>T (TTN-AS1) | ||
| XM_011511729.1:c.98259G>A (TTN) | XP_011510031.1:p.Lys32753= | |
| XM_011511730.1:c.72153G>A (TTN) | XP_011510032.1:p.Lys24051= | |
| XM_011511731.1:c.72012G>A (TTN) | XP_011510033.1:p.Lys24004= | |
| XM_017004819.1:c.98055G>A (TTN) | XP_016860308.1:p.Lys32685= | |
| XM_017004820.1:c.93453G>A (TTN) | XP_016860309.1:p.Lys31151= | |
| XM_017004821.1:c.93450G>A (TTN) | XP_016860310.1:p.Lys31150= | |
| XM_017004822.1:c.90492G>A (TTN) | XP_016860311.1:p.Lys30164= | |
| XM_017004823.1:c.72108G>A (TTN) | XP_016860312.1:p.Lys24036= | |
| XM_024453094.1:c.93603G>A (TTN) | XP_024308862.1:p.Lys31201= | |
| XM_024453095.1:c.93600G>A (TTN) | XP_024308863.1:p.Lys31200= | |
| XM_024453096.1:c.93033G>A (TTN) | XP_024308864.1:p.Lys31011= | |
| XM_024453097.1:c.90375G>A (TTN) | XP_024308865.1:p.Lys30125= | |
| XM_024453098.1:c.90294G>A (TTN) | XP_024308866.1:p.Lys30098= | |
| XM_024453099.1:c.72057G>A (TTN) | XP_024308867.1:p.Lys24019= | |
| XM_024453100.1:c.61911G>A (TTN) | XP_024308868.1:p.Lys20637= |