Linked Data
ClinVar Variation Id:
332855
dbSNP Id:
rs148808516
ExAC:
2:179482676 G / A
gnomAD v2:
2-179482676-G-A
gnomAD v3:
2-178617949-G-A
gnomAD v4:
2-178617949-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617949G>A , CM000664.2:g.178617949G>A | GRCh38 |
| NC_000002.11:g.179482676G>A , CM000664.1:g.179482676G>A | GRCh37 |
| NC_000002.10:g.179190921G>A | NCBI36 |
| NG_011618.3:g.217854C>T , LRG_391:g.217854C>T | |
| NG_051363.1:g.100123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39698C>T (TTN) | ENSP00000343764.6:p.Thr13233Ile | |
| ENST00000342175.11:c.20783C>T (TTN) | ENSP00000340554.6:p.Thr6928Ile | |
| ENST00000359218.10:c.20582C>T (TTN) | ENSP00000352154.5:p.Thr6861Ile | |
| ENST00000342175.10:c.20783C>T (TTN) | ENSP00000340554.6:p.Thr6928Ile | |
| ENST00000342992.10:c.39698C>T (TTN) | ENSP00000343764.6:p.Thr13233Ile | |
| ENST00000359218.9:c.20582C>T (TTN) | ENSP00000352154.5:p.Thr6861Ile | |
| ENST00000460472.6:c.20207C>T (TTN) | ENSP00000434586.1:p.Thr6736Ile | |
| ENST00000589042.5:c.47402C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr15801Ile | |
| ENST00000591111.5:c.42479C>T (TTN) | ENSP00000465570.1:p.Thr14160Ile | |
| ENST00000615779.4:c.42479C>T (TTN) | ENSP00000483597.1:p.Thr14160Ile | |
| NM_001256850.1:c.42479C>T (TTN) | NP_001243779.1:p.Thr14160Ile | |
| NM_001267550.2:c.47402C>T (TTN) MANE Select | NP_001254479.2:p.Thr15801Ile | |
| NM_003319.4:c.20207C>T (TTN) | NP_003310.4:p.Thr6736Ile | |
| NM_133378.4:c.39698C>T (TTN) | NP_596869.4:p.Thr13233Ile | |
| NM_133432.3:c.20582C>T (TTN) | NP_597676.3:p.Thr6861Ile | |
| NM_133437.4:c.20783C>T (TTN) | NP_597681.4:p.Thr6928Ile | |
| NR_038271.1:n.1605-1804G>A (TTN-AS1) | ||
| XM_011511729.1:c.46499C>T (TTN) | XP_011510031.1:p.Thr15500Ile | |
| XM_011511730.1:c.20393C>T (TTN) | XP_011510032.1:p.Thr6798Ile | |
| XM_011511731.1:c.20252C>T (TTN) | XP_011510033.1:p.Thr6751Ile | |
| XM_017004819.1:c.46295C>T (TTN) | XP_016860308.1:p.Thr15432Ile | |
| XM_017004820.1:c.41693C>T (TTN) | XP_016860309.1:p.Thr13898Ile | |
| XM_017004821.1:c.41690C>T (TTN) | XP_016860310.1:p.Thr13897Ile | |
| XM_017004822.1:c.38732C>T (TTN) | XP_016860311.1:p.Thr12911Ile | |
| XM_017004823.1:c.20348C>T (TTN) | XP_016860312.1:p.Thr6783Ile | |
| XM_024453094.1:c.41843C>T (TTN) | XP_024308862.1:p.Thr13948Ile | |
| XM_024453095.1:c.41840C>T (TTN) | XP_024308863.1:p.Thr13947Ile | |
| XM_024453096.1:c.41273C>T (TTN) | XP_024308864.1:p.Thr13758Ile | |
| XM_024453097.1:c.38615C>T (TTN) | XP_024308865.1:p.Thr12872Ile | |
| XM_024453098.1:c.38534C>T (TTN) | XP_024308866.1:p.Thr12845Ile | |
| XM_024453099.1:c.20297C>T (TTN) | XP_024308867.1:p.Thr6766Ile | |
| XM_024453100.1:c.10151C>T (TTN) | XP_024308868.1:p.Thr3384Ile |