Linked Data
ClinVar Variation Id:
286204
dbSNP Id:
rs767559716
ExAC:
2:179472230 G / A
gnomAD v2:
2-179472230-G-A
gnomAD v4:
2-178607503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607503G>A , CM000664.2:g.178607503G>A | GRCh38 |
| NC_000002.11:g.179472230G>A , CM000664.1:g.179472230G>A | GRCh37 |
| NC_000002.10:g.179180475G>A | NCBI36 |
| NG_011618.3:g.228300C>T , LRG_391:g.228300C>T | |
| NG_051363.1:g.89677G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.45481C>T (TTN) | ENSP00000343764.6:p.Leu15161= | |
| ENST00000342175.11:c.26566C>T (TTN) | ENSP00000340554.6:p.Leu8856= | |
| ENST00000359218.10:c.26365C>T (TTN) | ENSP00000352154.5:p.Leu8789= | |
| ENST00000342175.10:c.26566C>T (TTN) | ENSP00000340554.6:p.Leu8856= | |
| ENST00000342992.10:c.45481C>T (TTN) | ENSP00000343764.6:p.Leu15161= | |
| ENST00000359218.9:c.26365C>T (TTN) | ENSP00000352154.5:p.Leu8789= | |
| ENST00000460472.6:c.25990C>T (TTN) | ENSP00000434586.1:p.Leu8664= | |
| ENST00000589042.5:c.53185C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu17729= | |
| ENST00000591111.5:c.48262C>T (TTN) | ENSP00000465570.1:p.Leu16088= | |
| ENST00000615779.4:c.48262C>T (TTN) | ENSP00000483597.1:p.Leu16088= | |
| NM_001256850.1:c.48262C>T (TTN) | NP_001243779.1:p.Leu16088= | |
| NM_001267550.2:c.53185C>T (TTN) MANE Select | NP_001254479.2:p.Leu17729= | |
| NM_003319.4:c.25990C>T (TTN) | NP_003310.4:p.Leu8664= | |
| NM_133378.4:c.45481C>T (TTN) | NP_596869.4:p.Leu15161= | |
| NM_133432.3:c.26365C>T (TTN) | NP_597676.3:p.Leu8789= | |
| NM_133437.4:c.26566C>T (TTN) | NP_597681.4:p.Leu8856= | |
| NR_038271.1:n.683-664G>A (TTN-AS1) | ||
| XM_011511729.1:c.52282C>T (TTN) | XP_011510031.1:p.Leu17428= | |
| XM_011511730.1:c.26176C>T (TTN) | XP_011510032.1:p.Leu8726= | |
| XM_011511731.1:c.26035C>T (TTN) | XP_011510033.1:p.Leu8679= | |
| XM_017004819.1:c.52078C>T (TTN) | XP_016860308.1:p.Leu17360= | |
| XM_017004820.1:c.47476C>T (TTN) | XP_016860309.1:p.Leu15826= | |
| XM_017004821.1:c.47473C>T (TTN) | XP_016860310.1:p.Leu15825= | |
| XM_017004822.1:c.44515C>T (TTN) | XP_016860311.1:p.Leu14839= | |
| XM_017004823.1:c.26131C>T (TTN) | XP_016860312.1:p.Leu8711= | |
| XM_024453094.1:c.47626C>T (TTN) | XP_024308862.1:p.Leu15876= | |
| XM_024453095.1:c.47623C>T (TTN) | XP_024308863.1:p.Leu15875= | |
| XM_024453096.1:c.47056C>T (TTN) | XP_024308864.1:p.Leu15686= | |
| XM_024453097.1:c.44398C>T (TTN) | XP_024308865.1:p.Leu14800= | |
| XM_024453098.1:c.44317C>T (TTN) | XP_024308866.1:p.Leu14773= | |
| XM_024453099.1:c.26080C>T (TTN) | XP_024308867.1:p.Leu8694= | |
| XM_024453100.1:c.15934C>T (TTN) | XP_024308868.1:p.Leu5312= |