Linked Data
ClinVar Variation Id:
332777
dbSNP Id:
rs758581188
ExAC:
2:179434876 G / A
gnomAD v2:
2-179434876-G-A
gnomAD v3:
2-178570149-G-A
gnomAD v4:
2-178570149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570149G>A , CM000664.2:g.178570149G>A | GRCh38 |
| NC_000002.11:g.179434876G>A , CM000664.1:g.179434876G>A | GRCh37 |
| NC_000002.10:g.179143122G>A | NCBI36 |
| NG_011618.3:g.265654C>T , LRG_391:g.265654C>T | |
| NG_051363.1:g.52323G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.68279C>T (TTN) | ENSP00000343764.6:p.Pro22760Leu | |
| ENST00000342175.11:c.49364C>T (TTN) | ENSP00000340554.6:p.Pro16455Leu | |
| ENST00000359218.10:c.49163C>T (TTN) | ENSP00000352154.5:p.Pro16388Leu | |
| ENST00000342175.10:c.49364C>T (TTN) | ENSP00000340554.6:p.Pro16455Leu | |
| ENST00000342992.10:c.68279C>T (TTN) | ENSP00000343764.6:p.Pro22760Leu | |
| ENST00000359218.9:c.49163C>T (TTN) | ENSP00000352154.5:p.Pro16388Leu | |
| ENST00000460472.6:c.48788C>T (TTN) | ENSP00000434586.1:p.Pro16263Leu | |
| ENST00000589042.5:c.75983C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro25328Leu | |
| ENST00000591111.5:c.71060C>T (TTN) | ENSP00000465570.1:p.Pro23687Leu | |
| ENST00000615779.4:c.71060C>T (TTN) | ENSP00000483597.1:p.Pro23687Leu | |
| NM_001256850.1:c.71060C>T (TTN) | NP_001243779.1:p.Pro23687Leu | |
| NM_001267550.2:c.75983C>T (TTN) MANE Select | NP_001254479.2:p.Pro25328Leu | |
| NM_003319.4:c.48788C>T (TTN) | NP_003310.4:p.Pro16263Leu | |
| NM_133378.4:c.68279C>T (TTN) | NP_596869.4:p.Pro22760Leu | |
| NM_133432.3:c.49163C>T (TTN) | NP_597676.3:p.Pro16388Leu | |
| NM_133437.4:c.49364C>T (TTN) | NP_597681.4:p.Pro16455Leu | |
| NR_038271.1:n.447-1151G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12423G>A (TTN-AS1) | ||
| XM_011511729.1:c.75080C>T (TTN) | XP_011510031.1:p.Pro25027Leu | |
| XM_011511730.1:c.48974C>T (TTN) | XP_011510032.1:p.Pro16325Leu | |
| XM_011511731.1:c.48833C>T (TTN) | XP_011510033.1:p.Pro16278Leu | |
| XM_017004819.1:c.74876C>T (TTN) | XP_016860308.1:p.Pro24959Leu | |
| XM_017004820.1:c.70274C>T (TTN) | XP_016860309.1:p.Pro23425Leu | |
| XM_017004821.1:c.70271C>T (TTN) | XP_016860310.1:p.Pro23424Leu | |
| XM_017004822.1:c.67313C>T (TTN) | XP_016860311.1:p.Pro22438Leu | |
| XM_017004823.1:c.48929C>T (TTN) | XP_016860312.1:p.Pro16310Leu | |
| XM_024453094.1:c.70424C>T (TTN) | XP_024308862.1:p.Pro23475Leu | |
| XM_024453095.1:c.70421C>T (TTN) | XP_024308863.1:p.Pro23474Leu | |
| XM_024453096.1:c.69854C>T (TTN) | XP_024308864.1:p.Pro23285Leu | |
| XM_024453097.1:c.67196C>T (TTN) | XP_024308865.1:p.Pro22399Leu | |
| XM_024453098.1:c.67115C>T (TTN) | XP_024308866.1:p.Pro22372Leu | |
| XM_024453099.1:c.48878C>T (TTN) | XP_024308867.1:p.Pro16293Leu | |
| XM_024453100.1:c.38732C>T (TTN) | XP_024308868.1:p.Pro12911Leu |