Linked Data
ClinVar Variation Id:
47639
ClinVar RCV Id:
RCV000040908
RCV000246329
RCV000769857
RCV000713950
RCV001131492
RCV001131493
RCV001134484
RCV000852780
RCV001131495
RCV001079468
RCV001131494
RCV002227931
dbSNP Id:
rs34924609
ExAC:
2:179399677 C / T
gnomAD v2:
2-179399677-C-T
gnomAD v3:
2-178534950-C-T
gnomAD v4:
2-178534950-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534950C>T , CM000664.2:g.178534950C>T | GRCh38 |
| NC_000002.11:g.179399677C>T , CM000664.1:g.179399677C>T | GRCh37 |
| NC_000002.10:g.179107923C>T | NCBI36 |
| NG_011618.3:g.300853G>A , LRG_391:g.300853G>A | |
| NG_051363.1:g.17124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93961G>A (TTN) | ENSP00000343764.6:p.Val31321Ile | |
| ENST00000342175.11:c.75046G>A (TTN) | ENSP00000340554.6:p.Val25016Ile | |
| ENST00000359218.10:c.74845G>A (TTN) | ENSP00000352154.5:p.Val24949Ile | |
| ENST00000342175.10:c.75046G>A (TTN) | ENSP00000340554.6:p.Val25016Ile | |
| ENST00000342992.10:c.93961G>A (TTN) | ENSP00000343764.6:p.Val31321Ile | |
| ENST00000359218.9:c.74845G>A (TTN) | ENSP00000352154.5:p.Val24949Ile | |
| ENST00000460472.6:c.74470G>A (TTN) | ENSP00000434586.1:p.Val24824Ile | |
| ENST00000589042.5:c.101665G>A (TTN) MANE Select | ENSP00000467141.1:p.Val33889Ile | |
| ENST00000591111.5:c.96742G>A (TTN) | ENSP00000465570.1:p.Val32248Ile | |
| ENST00000615779.4:c.96742G>A (TTN) | ENSP00000483597.1:p.Val32248Ile | |
| NM_001256850.1:c.96742G>A (TTN) | NP_001243779.1:p.Val32248Ile | |
| NM_001267550.2:c.101665G>A (TTN) MANE Select | NP_001254479.2:p.Val33889Ile | |
| NM_003319.4:c.74470G>A (TTN) | NP_003310.4:p.Val24824Ile | |
| NM_133378.4:c.93961G>A (TTN) | NP_596869.4:p.Val31321Ile | |
| NM_133432.3:c.74845G>A (TTN) | NP_597676.3:p.Val24949Ile | |
| NM_133437.4:c.75046G>A (TTN) | NP_597681.4:p.Val25016Ile | |
| NR_038271.1:n.446+11314C>T (TTN-AS1) | ||
| NR_038272.1:n.220-782C>T (TTN-AS1) | ||
| XM_011511729.1:c.100762G>A (TTN) | XP_011510031.1:p.Val33588Ile | |
| XM_011511730.1:c.74656G>A (TTN) | XP_011510032.1:p.Val24886Ile | |
| XM_011511731.1:c.74515G>A (TTN) | XP_011510033.1:p.Val24839Ile | |
| XM_017004819.1:c.100558G>A (TTN) | XP_016860308.1:p.Val33520Ile | |
| XM_017004820.1:c.95956G>A (TTN) | XP_016860309.1:p.Val31986Ile | |
| XM_017004821.1:c.95953G>A (TTN) | XP_016860310.1:p.Val31985Ile | |
| XM_017004822.1:c.92995G>A (TTN) | XP_016860311.1:p.Val30999Ile | |
| XM_017004823.1:c.74611G>A (TTN) | XP_016860312.1:p.Val24871Ile | |
| XM_024453094.1:c.96106G>A (TTN) | XP_024308862.1:p.Val32036Ile | |
| XM_024453095.1:c.96103G>A (TTN) | XP_024308863.1:p.Val32035Ile | |
| XM_024453096.1:c.95536G>A (TTN) | XP_024308864.1:p.Val31846Ile | |
| XM_024453097.1:c.92878G>A (TTN) | XP_024308865.1:p.Val30960Ile | |
| XM_024453098.1:c.92797G>A (TTN) | XP_024308866.1:p.Val30933Ile | |
| XM_024453099.1:c.74560G>A (TTN) | XP_024308867.1:p.Val24854Ile | |
| XM_024453100.1:c.64414G>A (TTN) | XP_024308868.1:p.Val21472Ile |