Linked Data
ClinVar Variation Id:
196653
dbSNP Id:
rs794727542
gnomAD v2:
2-179398531-C-T
gnomAD v4:
2-178533804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533804C>T , CM000664.2:g.178533804C>T | GRCh38 |
| NC_000002.11:g.179398531C>T , CM000664.1:g.179398531C>T | GRCh37 |
| NC_000002.10:g.179106777C>T | NCBI36 |
| NG_011618.3:g.301999G>A , LRG_391:g.301999G>A | |
| NG_051363.1:g.15978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95107G>A (TTN) | ENSP00000343764.6:p.Val31703Ile | |
| ENST00000342175.11:c.76192G>A (TTN) | ENSP00000340554.6:p.Val25398Ile | |
| ENST00000359218.10:c.75991G>A (TTN) | ENSP00000352154.5:p.Val25331Ile | |
| ENST00000342175.10:c.76192G>A (TTN) | ENSP00000340554.6:p.Val25398Ile | |
| ENST00000342992.10:c.95107G>A (TTN) | ENSP00000343764.6:p.Val31703Ile | |
| ENST00000359218.9:c.75991G>A (TTN) | ENSP00000352154.5:p.Val25331Ile | |
| ENST00000460472.6:c.75616G>A (TTN) | ENSP00000434586.1:p.Val25206Ile | |
| ENST00000589042.5:c.102811G>A (TTN) MANE Select | ENSP00000467141.1:p.Val34271Ile | |
| ENST00000591111.5:c.97888G>A (TTN) | ENSP00000465570.1:p.Val32630Ile | |
| ENST00000615779.4:c.97888G>A (TTN) | ENSP00000483597.1:p.Val32630Ile | |
| NM_001256850.1:c.97888G>A (TTN) | NP_001243779.1:p.Val32630Ile | |
| NM_001267550.2:c.102811G>A (TTN) MANE Select | NP_001254479.2:p.Val34271Ile | |
| NM_003319.4:c.75616G>A (TTN) | NP_003310.4:p.Val25206Ile | |
| NM_133378.4:c.95107G>A (TTN) | NP_596869.4:p.Val31703Ile | |
| NM_133432.3:c.75991G>A (TTN) | NP_597676.3:p.Val25331Ile | |
| NM_133437.4:c.76192G>A (TTN) | NP_597681.4:p.Val25398Ile | |
| NR_038271.1:n.446+10168C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1928C>T (TTN-AS1) | ||
| XM_011511729.1:c.101908G>A (TTN) | XP_011510031.1:p.Val33970Ile | |
| XM_011511730.1:c.75802G>A (TTN) | XP_011510032.1:p.Val25268Ile | |
| XM_011511731.1:c.75661G>A (TTN) | XP_011510033.1:p.Val25221Ile | |
| XM_017004819.1:c.101704G>A (TTN) | XP_016860308.1:p.Val33902Ile | |
| XM_017004820.1:c.97102G>A (TTN) | XP_016860309.1:p.Val32368Ile | |
| XM_017004821.1:c.97099G>A (TTN) | XP_016860310.1:p.Val32367Ile | |
| XM_017004822.1:c.94141G>A (TTN) | XP_016860311.1:p.Val31381Ile | |
| XM_017004823.1:c.75757G>A (TTN) | XP_016860312.1:p.Val25253Ile | |
| XM_024453094.1:c.97252G>A (TTN) | XP_024308862.1:p.Val32418Ile | |
| XM_024453095.1:c.97249G>A (TTN) | XP_024308863.1:p.Val32417Ile | |
| XM_024453096.1:c.96682G>A (TTN) | XP_024308864.1:p.Val32228Ile | |
| XM_024453097.1:c.94024G>A (TTN) | XP_024308865.1:p.Val31342Ile | |
| XM_024453098.1:c.93943G>A (TTN) | XP_024308866.1:p.Val31315Ile | |
| XM_024453099.1:c.75706G>A (TTN) | XP_024308867.1:p.Val25236Ile | |
| XM_024453100.1:c.65560G>A (TTN) | XP_024308868.1:p.Val21854Ile |