Linked Data
ClinVar Variation Id:
332724
ClinVar RCV Id:
RCV000270064
RCV000273724
RCV000331190
RCV000365869
RCV000643216
RCV002365394
RCV000369559
RCV004530330
dbSNP Id:
rs367549998
ExAC:
2:179411042 A / G
gnomAD v2:
2-179411042-A-G
gnomAD v3:
2-178546315-A-G
gnomAD v4:
2-178546315-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546315A>G , CM000664.2:g.178546315A>G | GRCh38 |
| NC_000002.11:g.179411042A>G , CM000664.1:g.179411042A>G | GRCh37 |
| NC_000002.10:g.179119288A>G | NCBI36 |
| NG_011618.3:g.289488T>C , LRG_391:g.289488T>C | |
| NG_051363.1:g.28489A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87312T>C (TTN) | ENSP00000343764.6:p.Thr29104= | |
| ENST00000342175.11:c.68397T>C (TTN) | ENSP00000340554.6:p.Thr22799= | |
| ENST00000359218.10:c.68196T>C (TTN) | ENSP00000352154.5:p.Thr22732= | |
| ENST00000342175.10:c.68397T>C (TTN) | ENSP00000340554.6:p.Thr22799= | |
| ENST00000342992.10:c.87312T>C (TTN) | ENSP00000343764.6:p.Thr29104= | |
| ENST00000359218.9:c.68196T>C (TTN) | ENSP00000352154.5:p.Thr22732= | |
| ENST00000460472.6:c.67821T>C (TTN) | ENSP00000434586.1:p.Thr22607= | |
| ENST00000589042.5:c.95016T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr31672= | |
| ENST00000591111.5:c.90093T>C (TTN) | ENSP00000465570.1:p.Thr30031= | |
| ENST00000615779.4:c.90093T>C (TTN) | ENSP00000483597.1:p.Thr30031= | |
| NM_001256850.1:c.90093T>C (TTN) | NP_001243779.1:p.Thr30031= | |
| NM_001267550.2:c.95016T>C (TTN) MANE Select | NP_001254479.2:p.Thr31672= | |
| NM_003319.4:c.67821T>C (TTN) | NP_003310.4:p.Thr22607= | |
| NM_133378.4:c.87312T>C (TTN) | NP_596869.4:p.Thr29104= | |
| NM_133432.3:c.68196T>C (TTN) | NP_597676.3:p.Thr22732= | |
| NM_133437.4:c.68397T>C (TTN) | NP_597681.4:p.Thr22799= | |
| NR_038271.1:n.446+22679A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+3954A>G (TTN-AS1) | ||
| XM_011511729.1:c.94113T>C (TTN) | XP_011510031.1:p.Thr31371= | |
| XM_011511730.1:c.68007T>C (TTN) | XP_011510032.1:p.Thr22669= | |
| XM_011511731.1:c.67866T>C (TTN) | XP_011510033.1:p.Thr22622= | |
| XM_017004819.1:c.93909T>C (TTN) | XP_016860308.1:p.Thr31303= | |
| XM_017004820.1:c.89307T>C (TTN) | XP_016860309.1:p.Thr29769= | |
| XM_017004821.1:c.89304T>C (TTN) | XP_016860310.1:p.Thr29768= | |
| XM_017004822.1:c.86346T>C (TTN) | XP_016860311.1:p.Thr28782= | |
| XM_017004823.1:c.67962T>C (TTN) | XP_016860312.1:p.Thr22654= | |
| XM_024453094.1:c.89457T>C (TTN) | XP_024308862.1:p.Thr29819= | |
| XM_024453095.1:c.89454T>C (TTN) | XP_024308863.1:p.Thr29818= | |
| XM_024453096.1:c.88887T>C (TTN) | XP_024308864.1:p.Thr29629= | |
| XM_024453097.1:c.86229T>C (TTN) | XP_024308865.1:p.Thr28743= | |
| XM_024453098.1:c.86148T>C (TTN) | XP_024308866.1:p.Thr28716= | |
| XM_024453099.1:c.67911T>C (TTN) | XP_024308867.1:p.Thr22637= | |
| XM_024453100.1:c.57765T>C (TTN) | XP_024308868.1:p.Thr19255= |