Linked Data
ClinVar Variation Id:
332751
dbSNP Id:
rs755164013
ExAC:
2:179426880 A / G
gnomAD v2:
2-179426880-A-G
gnomAD v3:
2-178562153-A-G
gnomAD v4:
2-178562153-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562153A>G , CM000664.2:g.178562153A>G | GRCh38 |
| NC_000002.11:g.179426880A>G , CM000664.1:g.179426880A>G | GRCh37 |
| NC_000002.10:g.179135126A>G | NCBI36 |
| NG_011618.3:g.273650T>C , LRG_391:g.273650T>C | |
| NG_051363.1:g.44327A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76275T>C (TTN) | ENSP00000343764.6:p.Thr25425= | |
| ENST00000342175.11:c.57360T>C (TTN) | ENSP00000340554.6:p.Thr19120= | |
| ENST00000359218.10:c.57159T>C (TTN) | ENSP00000352154.5:p.Thr19053= | |
| ENST00000342175.10:c.57360T>C (TTN) | ENSP00000340554.6:p.Thr19120= | |
| ENST00000342992.10:c.76275T>C (TTN) | ENSP00000343764.6:p.Thr25425= | |
| ENST00000359218.9:c.57159T>C (TTN) | ENSP00000352154.5:p.Thr19053= | |
| ENST00000460472.6:c.56784T>C (TTN) | ENSP00000434586.1:p.Thr18928= | |
| ENST00000589042.5:c.83979T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr27993= | |
| ENST00000591111.5:c.79056T>C (TTN) | ENSP00000465570.1:p.Thr26352= | |
| ENST00000615779.4:c.79056T>C (TTN) | ENSP00000483597.1:p.Thr26352= | |
| NM_001256850.1:c.79056T>C (TTN) | NP_001243779.1:p.Thr26352= | |
| NM_001267550.2:c.83979T>C (TTN) MANE Select | NP_001254479.2:p.Thr27993= | |
| NM_003319.4:c.56784T>C (TTN) | NP_003310.4:p.Thr18928= | |
| NM_133378.4:c.76275T>C (TTN) | NP_596869.4:p.Thr25425= | |
| NM_133432.3:c.57159T>C (TTN) | NP_597676.3:p.Thr19053= | |
| NM_133437.4:c.57360T>C (TTN) | NP_597681.4:p.Thr19120= | |
| NR_038271.1:n.447-9147A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+19792A>G (TTN-AS1) | ||
| XM_011511729.1:c.83076T>C (TTN) | XP_011510031.1:p.Thr27692= | |
| XM_011511730.1:c.56970T>C (TTN) | XP_011510032.1:p.Thr18990= | |
| XM_011511731.1:c.56829T>C (TTN) | XP_011510033.1:p.Thr18943= | |
| XM_017004819.1:c.82872T>C (TTN) | XP_016860308.1:p.Thr27624= | |
| XM_017004820.1:c.78270T>C (TTN) | XP_016860309.1:p.Thr26090= | |
| XM_017004821.1:c.78267T>C (TTN) | XP_016860310.1:p.Thr26089= | |
| XM_017004822.1:c.75309T>C (TTN) | XP_016860311.1:p.Thr25103= | |
| XM_017004823.1:c.56925T>C (TTN) | XP_016860312.1:p.Thr18975= | |
| XM_024453094.1:c.78420T>C (TTN) | XP_024308862.1:p.Thr26140= | |
| XM_024453095.1:c.78417T>C (TTN) | XP_024308863.1:p.Thr26139= | |
| XM_024453096.1:c.77850T>C (TTN) | XP_024308864.1:p.Thr25950= | |
| XM_024453097.1:c.75192T>C (TTN) | XP_024308865.1:p.Thr25064= | |
| XM_024453098.1:c.75111T>C (TTN) | XP_024308866.1:p.Thr25037= | |
| XM_024453099.1:c.56874T>C (TTN) | XP_024308867.1:p.Thr18958= | |
| XM_024453100.1:c.46728T>C (TTN) | XP_024308868.1:p.Thr15576= |