Linked Data
ClinVar Variation Id:
203071
ClinVar RCV Id:
RCV000185092
RCV000462205
RCV000727152
RCV001131014
RCV001131015
RCV001130308
RCV001130307
RCV001130309
RCV002390483
dbSNP Id:
rs751914956
ExAC:
2:179397912 A / G
gnomAD v2:
2-179397912-A-G
gnomAD v3:
2-178533185-A-G
gnomAD v4:
2-178533185-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533185A>G , CM000664.2:g.178533185A>G | GRCh38 |
| NC_000002.11:g.179397912A>G , CM000664.1:g.179397912A>G | GRCh37 |
| NC_000002.10:g.179106158A>G | NCBI36 |
| NG_011618.3:g.302618T>C , LRG_391:g.302618T>C | |
| NG_051363.1:g.15359A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95726T>C (TTN) | ENSP00000343764.6:p.Ile31909Thr | |
| ENST00000342175.11:c.76811T>C (TTN) | ENSP00000340554.6:p.Ile25604Thr | |
| ENST00000359218.10:c.76610T>C (TTN) | ENSP00000352154.5:p.Ile25537Thr | |
| ENST00000342175.10:c.76811T>C (TTN) | ENSP00000340554.6:p.Ile25604Thr | |
| ENST00000342992.10:c.95726T>C (TTN) | ENSP00000343764.6:p.Ile31909Thr | |
| ENST00000359218.9:c.76610T>C (TTN) | ENSP00000352154.5:p.Ile25537Thr | |
| ENST00000460472.6:c.76235T>C (TTN) | ENSP00000434586.1:p.Ile25412Thr | |
| ENST00000589042.5:c.103430T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile34477Thr | |
| ENST00000591111.5:c.98507T>C (TTN) | ENSP00000465570.1:p.Ile32836Thr | |
| ENST00000615779.4:c.98507T>C (TTN) | ENSP00000483597.1:p.Ile32836Thr | |
| NM_001256850.1:c.98507T>C (TTN) | NP_001243779.1:p.Ile32836Thr | |
| NM_001267550.2:c.103430T>C (TTN) MANE Select | NP_001254479.2:p.Ile34477Thr | |
| NM_003319.4:c.76235T>C (TTN) | NP_003310.4:p.Ile25412Thr | |
| NM_133378.4:c.95726T>C (TTN) | NP_596869.4:p.Ile31909Thr | |
| NM_133432.3:c.76610T>C (TTN) | NP_597676.3:p.Ile25537Thr | |
| NM_133437.4:c.76811T>C (TTN) | NP_597681.4:p.Ile25604Thr | |
| NR_038271.1:n.446+9549A>G (TTN-AS1) | ||
| NR_038272.1:n.220-2547A>G (TTN-AS1) | ||
| XM_011511729.1:c.102527T>C (TTN) | XP_011510031.1:p.Ile34176Thr | |
| XM_011511730.1:c.76421T>C (TTN) | XP_011510032.1:p.Ile25474Thr | |
| XM_011511731.1:c.76280T>C (TTN) | XP_011510033.1:p.Ile25427Thr | |
| XM_017004819.1:c.102323T>C (TTN) | XP_016860308.1:p.Ile34108Thr | |
| XM_017004820.1:c.97721T>C (TTN) | XP_016860309.1:p.Ile32574Thr | |
| XM_017004821.1:c.97718T>C (TTN) | XP_016860310.1:p.Ile32573Thr | |
| XM_017004822.1:c.94760T>C (TTN) | XP_016860311.1:p.Ile31587Thr | |
| XM_017004823.1:c.76376T>C (TTN) | XP_016860312.1:p.Ile25459Thr | |
| XM_024453094.1:c.97871T>C (TTN) | XP_024308862.1:p.Ile32624Thr | |
| XM_024453095.1:c.97868T>C (TTN) | XP_024308863.1:p.Ile32623Thr | |
| XM_024453096.1:c.97301T>C (TTN) | XP_024308864.1:p.Ile32434Thr | |
| XM_024453097.1:c.94643T>C (TTN) | XP_024308865.1:p.Ile31548Thr | |
| XM_024453098.1:c.94562T>C (TTN) | XP_024308866.1:p.Ile31521Thr | |
| XM_024453099.1:c.76325T>C (TTN) | XP_024308867.1:p.Ile25442Thr | |
| XM_024453100.1:c.66179T>C (TTN) | XP_024308868.1:p.Ile22060Thr |