Linked Data
ClinVar Variation Id:
229551
ClinVar RCV Id:
RCV000222441
RCV000525107
RCV000766676
RCV001130880
RCV001130881
RCV001133849
RCV001133850
RCV001130879
RCV002365162
dbSNP Id:
rs373876117
ExAC:
2:179407285 G / T
gnomAD v2:
2-179407285-G-T
gnomAD v3:
2-178542558-G-T
gnomAD v4:
2-178542558-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542558G>T , CM000664.2:g.178542558G>T | GRCh38 |
| NC_000002.11:g.179407285G>T , CM000664.1:g.179407285G>T | GRCh37 |
| NC_000002.10:g.179115531G>T | NCBI36 |
| NG_011618.3:g.293245C>A , LRG_391:g.293245C>A | |
| NG_051363.1:g.24732G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89494C>A (TTN) | ENSP00000343764.6:p.Pro29832Thr | |
| ENST00000342175.11:c.70579C>A (TTN) | ENSP00000340554.6:p.Pro23527Thr | |
| ENST00000359218.10:c.70378C>A (TTN) | ENSP00000352154.5:p.Pro23460Thr | |
| ENST00000342175.10:c.70579C>A (TTN) | ENSP00000340554.6:p.Pro23527Thr | |
| ENST00000342992.10:c.89494C>A (TTN) | ENSP00000343764.6:p.Pro29832Thr | |
| ENST00000359218.9:c.70378C>A (TTN) | ENSP00000352154.5:p.Pro23460Thr | |
| ENST00000460472.6:c.70003C>A (TTN) | ENSP00000434586.1:p.Pro23335Thr | |
| ENST00000589042.5:c.97198C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro32400Thr | |
| ENST00000591111.5:c.92275C>A (TTN) | ENSP00000465570.1:p.Pro30759Thr | |
| ENST00000615779.4:c.92275C>A (TTN) | ENSP00000483597.1:p.Pro30759Thr | |
| NM_001256850.1:c.92275C>A (TTN) | NP_001243779.1:p.Pro30759Thr | |
| NM_001267550.2:c.97198C>A (TTN) MANE Select | NP_001254479.2:p.Pro32400Thr | |
| NM_003319.4:c.70003C>A (TTN) | NP_003310.4:p.Pro23335Thr | |
| NM_133378.4:c.89494C>A (TTN) | NP_596869.4:p.Pro29832Thr | |
| NM_133432.3:c.70378C>A (TTN) | NP_597676.3:p.Pro23460Thr | |
| NM_133437.4:c.70579C>A (TTN) | NP_597681.4:p.Pro23527Thr | |
| NR_038271.1:n.446+18922G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+197G>T (TTN-AS1) | ||
| XM_011511729.1:c.96295C>A (TTN) | XP_011510031.1:p.Pro32099Thr | |
| XM_011511730.1:c.70189C>A (TTN) | XP_011510032.1:p.Pro23397Thr | |
| XM_011511731.1:c.70048C>A (TTN) | XP_011510033.1:p.Pro23350Thr | |
| XM_017004819.1:c.96091C>A (TTN) | XP_016860308.1:p.Pro32031Thr | |
| XM_017004820.1:c.91489C>A (TTN) | XP_016860309.1:p.Pro30497Thr | |
| XM_017004821.1:c.91486C>A (TTN) | XP_016860310.1:p.Pro30496Thr | |
| XM_017004822.1:c.88528C>A (TTN) | XP_016860311.1:p.Pro29510Thr | |
| XM_017004823.1:c.70144C>A (TTN) | XP_016860312.1:p.Pro23382Thr | |
| XM_024453094.1:c.91639C>A (TTN) | XP_024308862.1:p.Pro30547Thr | |
| XM_024453095.1:c.91636C>A (TTN) | XP_024308863.1:p.Pro30546Thr | |
| XM_024453096.1:c.91069C>A (TTN) | XP_024308864.1:p.Pro30357Thr | |
| XM_024453097.1:c.88411C>A (TTN) | XP_024308865.1:p.Pro29471Thr | |
| XM_024453098.1:c.88330C>A (TTN) | XP_024308866.1:p.Pro29444Thr | |
| XM_024453099.1:c.70093C>A (TTN) | XP_024308867.1:p.Pro23365Thr | |
| XM_024453100.1:c.59947C>A (TTN) | XP_024308868.1:p.Pro19983Thr |