Linked Data
ClinVar Variation Id:
282102
dbSNP Id:
rs777904054
ExAC:
2:179466621 G / A
gnomAD v2:
2-179466621-G-A
gnomAD v3:
2-178601894-G-A
gnomAD v4:
2-178601894-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601894G>A , CM000664.2:g.178601894G>A | GRCh38 |
| NC_000002.11:g.179466621G>A , CM000664.1:g.179466621G>A | GRCh37 |
| NC_000002.10:g.179174866G>A | NCBI36 |
| NG_011618.3:g.233909C>T , LRG_391:g.233909C>T | |
| NG_051363.1:g.84068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47586C>T (TTN) | ENSP00000343764.6:p.Pro15862= | |
| ENST00000342175.11:c.28671C>T (TTN) | ENSP00000340554.6:p.Pro9557= | |
| ENST00000359218.10:c.28470C>T (TTN) | ENSP00000352154.5:p.Pro9490= | |
| ENST00000342175.10:c.28671C>T (TTN) | ENSP00000340554.6:p.Pro9557= | |
| ENST00000342992.10:c.47586C>T (TTN) | ENSP00000343764.6:p.Pro15862= | |
| ENST00000359218.9:c.28470C>T (TTN) | ENSP00000352154.5:p.Pro9490= | |
| ENST00000460472.6:c.28095C>T (TTN) | ENSP00000434586.1:p.Pro9365= | |
| ENST00000589042.5:c.55290C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro18430= | |
| ENST00000591111.5:c.50367C>T (TTN) | ENSP00000465570.1:p.Pro16789= | |
| ENST00000615779.4:c.50367C>T (TTN) | ENSP00000483597.1:p.Pro16789= | |
| NM_001256850.1:c.50367C>T (TTN) | NP_001243779.1:p.Pro16789= | |
| NM_001267550.2:c.55290C>T (TTN) MANE Select | NP_001254479.2:p.Pro18430= | |
| NM_003319.4:c.28095C>T (TTN) | NP_003310.4:p.Pro9365= | |
| NM_133378.4:c.47586C>T (TTN) | NP_596869.4:p.Pro15862= | |
| NM_133432.3:c.28470C>T (TTN) | NP_597676.3:p.Pro9490= | |
| NM_133437.4:c.28671C>T (TTN) | NP_597681.4:p.Pro9557= | |
| NR_038271.1:n.682+4213G>A (TTN-AS1) | ||
| NR_038272.1:n.3917+1227G>A (TTN-AS1) | ||
| XM_011511729.1:c.54387C>T (TTN) | XP_011510031.1:p.Pro18129= | |
| XM_011511730.1:c.28281C>T (TTN) | XP_011510032.1:p.Pro9427= | |
| XM_011511731.1:c.28140C>T (TTN) | XP_011510033.1:p.Pro9380= | |
| XM_017004819.1:c.54183C>T (TTN) | XP_016860308.1:p.Pro18061= | |
| XM_017004820.1:c.49581C>T (TTN) | XP_016860309.1:p.Pro16527= | |
| XM_017004821.1:c.49578C>T (TTN) | XP_016860310.1:p.Pro16526= | |
| XM_017004822.1:c.46620C>T (TTN) | XP_016860311.1:p.Pro15540= | |
| XM_017004823.1:c.28236C>T (TTN) | XP_016860312.1:p.Pro9412= | |
| XM_024453094.1:c.49731C>T (TTN) | XP_024308862.1:p.Pro16577= | |
| XM_024453095.1:c.49728C>T (TTN) | XP_024308863.1:p.Pro16576= | |
| XM_024453096.1:c.49161C>T (TTN) | XP_024308864.1:p.Pro16387= | |
| XM_024453097.1:c.46503C>T (TTN) | XP_024308865.1:p.Pro15501= | |
| XM_024453098.1:c.46422C>T (TTN) | XP_024308866.1:p.Pro15474= | |
| XM_024453099.1:c.28185C>T (TTN) | XP_024308867.1:p.Pro9395= | |
| XM_024453100.1:c.18039C>T (TTN) | XP_024308868.1:p.Pro6013= |