Linked Data
ClinVar Variation Id:
47070
ClinVar RCV Id:
RCV000040340
RCV000172663
RCV000291245
RCV000350259
RCV000315170
RCV000335069
RCV000404069
RCV000770012
RCV000618788
RCV000852844
RCV001086451
RCV002221192
RCV004534906
dbSNP Id:
rs72646808
ExAC:
2:179472319 C / T
gnomAD v2:
2-179472319-C-T
gnomAD v3:
2-178607592-C-T
gnomAD v4:
2-178607592-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607592C>T , CM000664.2:g.178607592C>T | GRCh38 |
| NC_000002.11:g.179472319C>T , CM000664.1:g.179472319C>T | GRCh37 |
| NC_000002.10:g.179180564C>T | NCBI36 |
| NG_011618.3:g.228211G>A , LRG_391:g.228211G>A | |
| NG_051363.1:g.89766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45392G>A (TTN) | ENSP00000343764.6:p.Arg15131His | |
| ENST00000342175.11:c.26477G>A (TTN) | ENSP00000340554.6:p.Arg8826His | |
| ENST00000359218.10:c.26276G>A (TTN) | ENSP00000352154.5:p.Arg8759His | |
| ENST00000342175.10:c.26477G>A (TTN) | ENSP00000340554.6:p.Arg8826His | |
| ENST00000342992.10:c.45392G>A (TTN) | ENSP00000343764.6:p.Arg15131His | |
| ENST00000359218.9:c.26276G>A (TTN) | ENSP00000352154.5:p.Arg8759His | |
| ENST00000460472.6:c.25901G>A (TTN) | ENSP00000434586.1:p.Arg8634His | |
| ENST00000589042.5:c.53096G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17699His | |
| ENST00000591111.5:c.48173G>A (TTN) | ENSP00000465570.1:p.Arg16058His | |
| ENST00000615779.4:c.48173G>A (TTN) | ENSP00000483597.1:p.Arg16058His | |
| NM_001256850.1:c.48173G>A (TTN) | NP_001243779.1:p.Arg16058His | |
| NM_001267550.2:c.53096G>A (TTN) MANE Select | NP_001254479.2:p.Arg17699His | |
| NM_003319.4:c.25901G>A (TTN) | NP_003310.4:p.Arg8634His | |
| NM_133378.4:c.45392G>A (TTN) | NP_596869.4:p.Arg15131His | |
| NM_133432.3:c.26276G>A (TTN) | NP_597676.3:p.Arg8759His | |
| NM_133437.4:c.26477G>A (TTN) | NP_597681.4:p.Arg8826His | |
| NR_038271.1:n.683-575C>T (TTN-AS1) | ||
| XM_011511729.1:c.52193G>A (TTN) | XP_011510031.1:p.Arg17398His | |
| XM_011511730.1:c.26087G>A (TTN) | XP_011510032.1:p.Arg8696His | |
| XM_011511731.1:c.25946G>A (TTN) | XP_011510033.1:p.Arg8649His | |
| XM_017004819.1:c.51989G>A (TTN) | XP_016860308.1:p.Arg17330His | |
| XM_017004820.1:c.47387G>A (TTN) | XP_016860309.1:p.Arg15796His | |
| XM_017004821.1:c.47384G>A (TTN) | XP_016860310.1:p.Arg15795His | |
| XM_017004822.1:c.44426G>A (TTN) | XP_016860311.1:p.Arg14809His | |
| XM_017004823.1:c.26042G>A (TTN) | XP_016860312.1:p.Arg8681His | |
| XM_024453094.1:c.47537G>A (TTN) | XP_024308862.1:p.Arg15846His | |
| XM_024453095.1:c.47534G>A (TTN) | XP_024308863.1:p.Arg15845His | |
| XM_024453096.1:c.46967G>A (TTN) | XP_024308864.1:p.Arg15656His | |
| XM_024453097.1:c.44309G>A (TTN) | XP_024308865.1:p.Arg14770His | |
| XM_024453098.1:c.44228G>A (TTN) | XP_024308866.1:p.Arg14743His | |
| XM_024453099.1:c.25991G>A (TTN) | XP_024308867.1:p.Arg8664His | |
| XM_024453100.1:c.15845G>A (TTN) | XP_024308868.1:p.Arg5282His |