Linked Data
ClinVar Variation Id:
228179
dbSNP Id:
rs370618537
ExAC:
2:179397762 A / G
gnomAD v2:
2-179397762-A-G
gnomAD v3:
2-178533035-A-G
gnomAD v4:
2-178533035-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533035A>G , CM000664.2:g.178533035A>G | GRCh38 |
| NC_000002.11:g.179397762A>G , CM000664.1:g.179397762A>G | GRCh37 |
| NC_000002.10:g.179106008A>G | NCBI36 |
| NG_011618.3:g.302768T>C , LRG_391:g.302768T>C | |
| NG_051363.1:g.15209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95876T>C (TTN) | ENSP00000343764.6:p.Ile31959Thr | |
| ENST00000342175.11:c.76961T>C (TTN) | ENSP00000340554.6:p.Ile25654Thr | |
| ENST00000359218.10:c.76760T>C (TTN) | ENSP00000352154.5:p.Ile25587Thr | |
| ENST00000342175.10:c.76961T>C (TTN) | ENSP00000340554.6:p.Ile25654Thr | |
| ENST00000342992.10:c.95876T>C (TTN) | ENSP00000343764.6:p.Ile31959Thr | |
| ENST00000359218.9:c.76760T>C (TTN) | ENSP00000352154.5:p.Ile25587Thr | |
| ENST00000460472.6:c.76385T>C (TTN) | ENSP00000434586.1:p.Ile25462Thr | |
| ENST00000589042.5:c.103580T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile34527Thr | |
| ENST00000591111.5:c.98657T>C (TTN) | ENSP00000465570.1:p.Ile32886Thr | |
| ENST00000615779.4:c.98657T>C (TTN) | ENSP00000483597.1:p.Ile32886Thr | |
| NM_001256850.1:c.98657T>C (TTN) | NP_001243779.1:p.Ile32886Thr | |
| NM_001267550.2:c.103580T>C (TTN) MANE Select | NP_001254479.2:p.Ile34527Thr | |
| NM_003319.4:c.76385T>C (TTN) | NP_003310.4:p.Ile25462Thr | |
| NM_133378.4:c.95876T>C (TTN) | NP_596869.4:p.Ile31959Thr | |
| NM_133432.3:c.76760T>C (TTN) | NP_597676.3:p.Ile25587Thr | |
| NM_133437.4:c.76961T>C (TTN) | NP_597681.4:p.Ile25654Thr | |
| NR_038271.1:n.446+9399A>G (TTN-AS1) | ||
| NR_038272.1:n.220-2697A>G (TTN-AS1) | ||
| XM_011511729.1:c.102677T>C (TTN) | XP_011510031.1:p.Ile34226Thr | |
| XM_011511730.1:c.76571T>C (TTN) | XP_011510032.1:p.Ile25524Thr | |
| XM_011511731.1:c.76430T>C (TTN) | XP_011510033.1:p.Ile25477Thr | |
| XM_017004819.1:c.102473T>C (TTN) | XP_016860308.1:p.Ile34158Thr | |
| XM_017004820.1:c.97871T>C (TTN) | XP_016860309.1:p.Ile32624Thr | |
| XM_017004821.1:c.97868T>C (TTN) | XP_016860310.1:p.Ile32623Thr | |
| XM_017004822.1:c.94910T>C (TTN) | XP_016860311.1:p.Ile31637Thr | |
| XM_017004823.1:c.76526T>C (TTN) | XP_016860312.1:p.Ile25509Thr | |
| XM_024453094.1:c.98021T>C (TTN) | XP_024308862.1:p.Ile32674Thr | |
| XM_024453095.1:c.98018T>C (TTN) | XP_024308863.1:p.Ile32673Thr | |
| XM_024453096.1:c.97451T>C (TTN) | XP_024308864.1:p.Ile32484Thr | |
| XM_024453097.1:c.94793T>C (TTN) | XP_024308865.1:p.Ile31598Thr | |
| XM_024453098.1:c.94712T>C (TTN) | XP_024308866.1:p.Ile31571Thr | |
| XM_024453099.1:c.76475T>C (TTN) | XP_024308867.1:p.Ile25492Thr | |
| XM_024453100.1:c.66329T>C (TTN) | XP_024308868.1:p.Ile22110Thr |