Linked Data
ClinVar Variation Id:
47541
ClinVar RCV Id:
RCV000040810
RCV000288131
RCV000328211
RCV000332146
RCV000367671
RCV000382848
RCV000726857
RCV000768855
RCV001085173
RCV002362653
dbSNP Id:
rs376539252
ExAC:
2:179411532 G / A
gnomAD v2:
2-179411532-G-A
gnomAD v3:
2-178546805-G-A
gnomAD v4:
2-178546805-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546805G>A , CM000664.2:g.178546805G>A | GRCh38 |
| NC_000002.11:g.179411532G>A , CM000664.1:g.179411532G>A | GRCh37 |
| NC_000002.10:g.179119778G>A | NCBI36 |
| NG_011618.3:g.288998C>T , LRG_391:g.288998C>T | |
| NG_051363.1:g.28979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86919C>T (TTN) | ENSP00000343764.6:p.Tyr28973= | |
| ENST00000342175.11:c.68004C>T (TTN) | ENSP00000340554.6:p.Tyr22668= | |
| ENST00000359218.10:c.67803C>T (TTN) | ENSP00000352154.5:p.Tyr22601= | |
| ENST00000342175.10:c.68004C>T (TTN) | ENSP00000340554.6:p.Tyr22668= | |
| ENST00000342992.10:c.86919C>T (TTN) | ENSP00000343764.6:p.Tyr28973= | |
| ENST00000359218.9:c.67803C>T (TTN) | ENSP00000352154.5:p.Tyr22601= | |
| ENST00000460472.6:c.67428C>T (TTN) | ENSP00000434586.1:p.Tyr22476= | |
| ENST00000589042.5:c.94623C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr31541= | |
| ENST00000591111.5:c.89700C>T (TTN) | ENSP00000465570.1:p.Tyr29900= | |
| ENST00000615779.4:c.89700C>T (TTN) | ENSP00000483597.1:p.Tyr29900= | |
| NM_001256850.1:c.89700C>T (TTN) | NP_001243779.1:p.Tyr29900= | |
| NM_001267550.2:c.94623C>T (TTN) MANE Select | NP_001254479.2:p.Tyr31541= | |
| NM_003319.4:c.67428C>T (TTN) | NP_003310.4:p.Tyr22476= | |
| NM_133378.4:c.86919C>T (TTN) | NP_596869.4:p.Tyr28973= | |
| NM_133432.3:c.67803C>T (TTN) | NP_597676.3:p.Tyr22601= | |
| NM_133437.4:c.68004C>T (TTN) | NP_597681.4:p.Tyr22668= | |
| NR_038271.1:n.446+23169G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+4444G>A (TTN-AS1) | ||
| XM_011511729.1:c.93720C>T (TTN) | XP_011510031.1:p.Tyr31240= | |
| XM_011511730.1:c.67614C>T (TTN) | XP_011510032.1:p.Tyr22538= | |
| XM_011511731.1:c.67473C>T (TTN) | XP_011510033.1:p.Tyr22491= | |
| XM_017004819.1:c.93516C>T (TTN) | XP_016860308.1:p.Tyr31172= | |
| XM_017004820.1:c.88914C>T (TTN) | XP_016860309.1:p.Tyr29638= | |
| XM_017004821.1:c.88911C>T (TTN) | XP_016860310.1:p.Tyr29637= | |
| XM_017004822.1:c.85953C>T (TTN) | XP_016860311.1:p.Tyr28651= | |
| XM_017004823.1:c.67569C>T (TTN) | XP_016860312.1:p.Tyr22523= | |
| XM_024453094.1:c.89064C>T (TTN) | XP_024308862.1:p.Tyr29688= | |
| XM_024453095.1:c.89061C>T (TTN) | XP_024308863.1:p.Tyr29687= | |
| XM_024453096.1:c.88494C>T (TTN) | XP_024308864.1:p.Tyr29498= | |
| XM_024453097.1:c.85836C>T (TTN) | XP_024308865.1:p.Tyr28612= | |
| XM_024453098.1:c.85755C>T (TTN) | XP_024308866.1:p.Tyr28585= | |
| XM_024453099.1:c.67518C>T (TTN) | XP_024308867.1:p.Tyr22506= | |
| XM_024453100.1:c.57372C>T (TTN) | XP_024308868.1:p.Tyr19124= |