Linked Data
ClinVar Variation Id:
191906
dbSNP Id:
rs375202101
ExAC:
2:179440687 A / G
gnomAD v2:
2-179440687-A-G
gnomAD v3:
2-178575960-A-G
gnomAD v4:
2-178575960-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575960A>G , CM000664.2:g.178575960A>G | GRCh38 |
| NC_000002.11:g.179440687A>G , CM000664.1:g.179440687A>G | GRCh37 |
| NC_000002.10:g.179148933A>G | NCBI36 |
| NG_011618.3:g.259843T>C , LRG_391:g.259843T>C | |
| NG_051363.1:g.58134A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62468T>C (TTN) | ENSP00000343764.6:p.Ile20823Thr | |
| ENST00000342175.11:c.43553T>C (TTN) | ENSP00000340554.6:p.Ile14518Thr | |
| ENST00000359218.10:c.43352T>C (TTN) | ENSP00000352154.5:p.Ile14451Thr | |
| ENST00000342175.10:c.43553T>C (TTN) | ENSP00000340554.6:p.Ile14518Thr | |
| ENST00000342992.10:c.62468T>C (TTN) | ENSP00000343764.6:p.Ile20823Thr | |
| ENST00000359218.9:c.43352T>C (TTN) | ENSP00000352154.5:p.Ile14451Thr | |
| ENST00000460472.6:c.42977T>C (TTN) | ENSP00000434586.1:p.Ile14326Thr | |
| ENST00000589042.5:c.70172T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile23391Thr | |
| ENST00000591111.5:c.65249T>C (TTN) | ENSP00000465570.1:p.Ile21750Thr | |
| ENST00000615779.4:c.65249T>C (TTN) | ENSP00000483597.1:p.Ile21750Thr | |
| NM_001256850.1:c.65249T>C (TTN) | NP_001243779.1:p.Ile21750Thr | |
| NM_001267550.2:c.70172T>C (TTN) MANE Select | NP_001254479.2:p.Ile23391Thr | |
| NM_003319.4:c.42977T>C (TTN) | NP_003310.4:p.Ile14326Thr | |
| NM_133378.4:c.62468T>C (TTN) | NP_596869.4:p.Ile20823Thr | |
| NM_133432.3:c.43352T>C (TTN) | NP_597676.3:p.Ile14451Thr | |
| NM_133437.4:c.43553T>C (TTN) | NP_597681.4:p.Ile14518Thr | |
| NR_038271.1:n.596+4511A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-6612A>G (TTN-AS1) | ||
| XM_011511729.1:c.69269T>C (TTN) | XP_011510031.1:p.Ile23090Thr | |
| XM_011511730.1:c.43163T>C (TTN) | XP_011510032.1:p.Ile14388Thr | |
| XM_011511731.1:c.43022T>C (TTN) | XP_011510033.1:p.Ile14341Thr | |
| XM_017004819.1:c.69065T>C (TTN) | XP_016860308.1:p.Ile23022Thr | |
| XM_017004820.1:c.64463T>C (TTN) | XP_016860309.1:p.Ile21488Thr | |
| XM_017004821.1:c.64460T>C (TTN) | XP_016860310.1:p.Ile21487Thr | |
| XM_017004822.1:c.61502T>C (TTN) | XP_016860311.1:p.Ile20501Thr | |
| XM_017004823.1:c.43118T>C (TTN) | XP_016860312.1:p.Ile14373Thr | |
| XM_024453094.1:c.64613T>C (TTN) | XP_024308862.1:p.Ile21538Thr | |
| XM_024453095.1:c.64610T>C (TTN) | XP_024308863.1:p.Ile21537Thr | |
| XM_024453096.1:c.64043T>C (TTN) | XP_024308864.1:p.Ile21348Thr | |
| XM_024453097.1:c.61385T>C (TTN) | XP_024308865.1:p.Ile20462Thr | |
| XM_024453098.1:c.61304T>C (TTN) | XP_024308866.1:p.Ile20435Thr | |
| XM_024453099.1:c.43067T>C (TTN) | XP_024308867.1:p.Ile14356Thr | |
| XM_024453100.1:c.32921T>C (TTN) | XP_024308868.1:p.Ile10974Thr |