Linked Data
ClinVar Variation Id:
404664
dbSNP Id:
rs370300135
ExAC:
2:179401787 G / A
gnomAD v2:
2-179401787-G-A
gnomAD v3:
2-178537060-G-A
gnomAD v4:
2-178537060-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537060G>A , CM000664.2:g.178537060G>A | GRCh38 |
| NC_000002.11:g.179401787G>A , CM000664.1:g.179401787G>A | GRCh37 |
| NC_000002.10:g.179110033G>A | NCBI36 |
| NG_011618.3:g.298743C>T , LRG_391:g.298743C>T | |
| NG_051363.1:g.19234G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92345C>T (TTN) | ENSP00000343764.6:p.Thr30782Ile | |
| ENST00000342175.11:c.73430C>T (TTN) | ENSP00000340554.6:p.Thr24477Ile | |
| ENST00000359218.10:c.73229C>T (TTN) | ENSP00000352154.5:p.Thr24410Ile | |
| ENST00000342175.10:c.73430C>T (TTN) | ENSP00000340554.6:p.Thr24477Ile | |
| ENST00000342992.10:c.92345C>T (TTN) | ENSP00000343764.6:p.Thr30782Ile | |
| ENST00000359218.9:c.73229C>T (TTN) | ENSP00000352154.5:p.Thr24410Ile | |
| ENST00000460472.6:c.72854C>T (TTN) | ENSP00000434586.1:p.Thr24285Ile | |
| ENST00000589042.5:c.100049C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr33350Ile | |
| ENST00000591111.5:c.95126C>T (TTN) | ENSP00000465570.1:p.Thr31709Ile | |
| ENST00000615779.4:c.95126C>T (TTN) | ENSP00000483597.1:p.Thr31709Ile | |
| NM_001256850.1:c.95126C>T (TTN) | NP_001243779.1:p.Thr31709Ile | |
| NM_001267550.2:c.100049C>T (TTN) MANE Select | NP_001254479.2:p.Thr33350Ile | |
| NM_003319.4:c.72854C>T (TTN) | NP_003310.4:p.Thr24285Ile | |
| NM_133378.4:c.92345C>T (TTN) | NP_596869.4:p.Thr30782Ile | |
| NM_133432.3:c.73229C>T (TTN) | NP_597676.3:p.Thr24410Ile | |
| NM_133437.4:c.73430C>T (TTN) | NP_597681.4:p.Thr24477Ile | |
| NR_038271.1:n.446+13424G>A (TTN-AS1) | ||
| NR_038272.1:n.317-301G>A (TTN-AS1) | ||
| XM_011511729.1:c.99146C>T (TTN) | XP_011510031.1:p.Thr33049Ile | |
| XM_011511730.1:c.73040C>T (TTN) | XP_011510032.1:p.Thr24347Ile | |
| XM_011511731.1:c.72899C>T (TTN) | XP_011510033.1:p.Thr24300Ile | |
| XM_017004819.1:c.98942C>T (TTN) | XP_016860308.1:p.Thr32981Ile | |
| XM_017004820.1:c.94340C>T (TTN) | XP_016860309.1:p.Thr31447Ile | |
| XM_017004821.1:c.94337C>T (TTN) | XP_016860310.1:p.Thr31446Ile | |
| XM_017004822.1:c.91379C>T (TTN) | XP_016860311.1:p.Thr30460Ile | |
| XM_017004823.1:c.72995C>T (TTN) | XP_016860312.1:p.Thr24332Ile | |
| XM_024453094.1:c.94490C>T (TTN) | XP_024308862.1:p.Thr31497Ile | |
| XM_024453095.1:c.94487C>T (TTN) | XP_024308863.1:p.Thr31496Ile | |
| XM_024453096.1:c.93920C>T (TTN) | XP_024308864.1:p.Thr31307Ile | |
| XM_024453097.1:c.91262C>T (TTN) | XP_024308865.1:p.Thr30421Ile | |
| XM_024453098.1:c.91181C>T (TTN) | XP_024308866.1:p.Thr30394Ile | |
| XM_024453099.1:c.72944C>T (TTN) | XP_024308867.1:p.Thr24315Ile | |
| XM_024453100.1:c.62798C>T (TTN) | XP_024308868.1:p.Thr20933Ile |