Linked Data
ClinVar Variation Id:
502203
dbSNP Id:
rs947426325
gnomAD v2:
2-179398165-T-G
gnomAD v3:
2-178533438-T-G
gnomAD v4:
2-178533438-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533438T>G , CM000664.2:g.178533438T>G | GRCh38 |
| NC_000002.11:g.179398165T>G , CM000664.1:g.179398165T>G | GRCh37 |
| NC_000002.10:g.179106411T>G | NCBI36 |
| NG_011618.3:g.302365A>C , LRG_391:g.302365A>C | |
| NG_051363.1:g.15612T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95473A>C (TTN) | ENSP00000343764.6:p.Thr31825Pro | |
| ENST00000342175.11:c.76558A>C (TTN) | ENSP00000340554.6:p.Thr25520Pro | |
| ENST00000359218.10:c.76357A>C (TTN) | ENSP00000352154.5:p.Thr25453Pro | |
| ENST00000342175.10:c.76558A>C (TTN) | ENSP00000340554.6:p.Thr25520Pro | |
| ENST00000342992.10:c.95473A>C (TTN) | ENSP00000343764.6:p.Thr31825Pro | |
| ENST00000359218.9:c.76357A>C (TTN) | ENSP00000352154.5:p.Thr25453Pro | |
| ENST00000460472.6:c.75982A>C (TTN) | ENSP00000434586.1:p.Thr25328Pro | |
| ENST00000589042.5:c.103177A>C (TTN) MANE Select | ENSP00000467141.1:p.Thr34393Pro | |
| ENST00000591111.5:c.98254A>C (TTN) | ENSP00000465570.1:p.Thr32752Pro | |
| ENST00000615779.4:c.98254A>C (TTN) | ENSP00000483597.1:p.Thr32752Pro | |
| NM_001256850.1:c.98254A>C (TTN) | NP_001243779.1:p.Thr32752Pro | |
| NM_001267550.2:c.103177A>C (TTN) MANE Select | NP_001254479.2:p.Thr34393Pro | |
| NM_003319.4:c.75982A>C (TTN) | NP_003310.4:p.Thr25328Pro | |
| NM_133378.4:c.95473A>C (TTN) | NP_596869.4:p.Thr31825Pro | |
| NM_133432.3:c.76357A>C (TTN) | NP_597676.3:p.Thr25453Pro | |
| NM_133437.4:c.76558A>C (TTN) | NP_597681.4:p.Thr25520Pro | |
| NR_038271.1:n.446+9802T>G (TTN-AS1) | ||
| NR_038272.1:n.220-2294T>G (TTN-AS1) | ||
| XM_011511729.1:c.102274A>C (TTN) | XP_011510031.1:p.Thr34092Pro | |
| XM_011511730.1:c.76168A>C (TTN) | XP_011510032.1:p.Thr25390Pro | |
| XM_011511731.1:c.76027A>C (TTN) | XP_011510033.1:p.Thr25343Pro | |
| XM_017004819.1:c.102070A>C (TTN) | XP_016860308.1:p.Thr34024Pro | |
| XM_017004820.1:c.97468A>C (TTN) | XP_016860309.1:p.Thr32490Pro | |
| XM_017004821.1:c.97465A>C (TTN) | XP_016860310.1:p.Thr32489Pro | |
| XM_017004822.1:c.94507A>C (TTN) | XP_016860311.1:p.Thr31503Pro | |
| XM_017004823.1:c.76123A>C (TTN) | XP_016860312.1:p.Thr25375Pro | |
| XM_024453094.1:c.97618A>C (TTN) | XP_024308862.1:p.Thr32540Pro | |
| XM_024453095.1:c.97615A>C (TTN) | XP_024308863.1:p.Thr32539Pro | |
| XM_024453096.1:c.97048A>C (TTN) | XP_024308864.1:p.Thr32350Pro | |
| XM_024453097.1:c.94390A>C (TTN) | XP_024308865.1:p.Thr31464Pro | |
| XM_024453098.1:c.94309A>C (TTN) | XP_024308866.1:p.Thr31437Pro | |
| XM_024453099.1:c.76072A>C (TTN) | XP_024308867.1:p.Thr25358Pro | |
| XM_024453100.1:c.65926A>C (TTN) | XP_024308868.1:p.Thr21976Pro |