Linked Data
ClinVar Variation Id:
202863
dbSNP Id:
rs377226540
ExAC:
2:179435177 G / A
gnomAD v2:
2-179435177-G-A
gnomAD v3:
2-178570450-G-A
gnomAD v4:
2-178570450-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570450G>A , CM000664.2:g.178570450G>A | GRCh38 |
| NC_000002.11:g.179435177G>A , CM000664.1:g.179435177G>A | GRCh37 |
| NC_000002.10:g.179143423G>A | NCBI36 |
| NG_011618.3:g.265353C>T , LRG_391:g.265353C>T | |
| NG_051363.1:g.52624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67978C>T (TTN) | ENSP00000343764.6:p.Pro22660Ser | |
| ENST00000342175.11:c.49063C>T (TTN) | ENSP00000340554.6:p.Pro16355Ser | |
| ENST00000359218.10:c.48862C>T (TTN) | ENSP00000352154.5:p.Pro16288Ser | |
| ENST00000342175.10:c.49063C>T (TTN) | ENSP00000340554.6:p.Pro16355Ser | |
| ENST00000342992.10:c.67978C>T (TTN) | ENSP00000343764.6:p.Pro22660Ser | |
| ENST00000359218.9:c.48862C>T (TTN) | ENSP00000352154.5:p.Pro16288Ser | |
| ENST00000460472.6:c.48487C>T (TTN) | ENSP00000434586.1:p.Pro16163Ser | |
| ENST00000589042.5:c.75682C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro25228Ser | |
| ENST00000591111.5:c.70759C>T (TTN) | ENSP00000465570.1:p.Pro23587Ser | |
| ENST00000615779.4:c.70759C>T (TTN) | ENSP00000483597.1:p.Pro23587Ser | |
| NM_001256850.1:c.70759C>T (TTN) | NP_001243779.1:p.Pro23587Ser | |
| NM_001267550.2:c.75682C>T (TTN) MANE Select | NP_001254479.2:p.Pro25228Ser | |
| NM_003319.4:c.48487C>T (TTN) | NP_003310.4:p.Pro16163Ser | |
| NM_133378.4:c.67978C>T (TTN) | NP_596869.4:p.Pro22660Ser | |
| NM_133432.3:c.48862C>T (TTN) | NP_597676.3:p.Pro16288Ser | |
| NM_133437.4:c.49063C>T (TTN) | NP_597681.4:p.Pro16355Ser | |
| NR_038271.1:n.447-850G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12122G>A (TTN-AS1) | ||
| XM_011511729.1:c.74779C>T (TTN) | XP_011510031.1:p.Pro24927Ser | |
| XM_011511730.1:c.48673C>T (TTN) | XP_011510032.1:p.Pro16225Ser | |
| XM_011511731.1:c.48532C>T (TTN) | XP_011510033.1:p.Pro16178Ser | |
| XM_017004819.1:c.74575C>T (TTN) | XP_016860308.1:p.Pro24859Ser | |
| XM_017004820.1:c.69973C>T (TTN) | XP_016860309.1:p.Pro23325Ser | |
| XM_017004821.1:c.69970C>T (TTN) | XP_016860310.1:p.Pro23324Ser | |
| XM_017004822.1:c.67012C>T (TTN) | XP_016860311.1:p.Pro22338Ser | |
| XM_017004823.1:c.48628C>T (TTN) | XP_016860312.1:p.Pro16210Ser | |
| XM_024453094.1:c.70123C>T (TTN) | XP_024308862.1:p.Pro23375Ser | |
| XM_024453095.1:c.70120C>T (TTN) | XP_024308863.1:p.Pro23374Ser | |
| XM_024453096.1:c.69553C>T (TTN) | XP_024308864.1:p.Pro23185Ser | |
| XM_024453097.1:c.66895C>T (TTN) | XP_024308865.1:p.Pro22299Ser | |
| XM_024453098.1:c.66814C>T (TTN) | XP_024308866.1:p.Pro22272Ser | |
| XM_024453099.1:c.48577C>T (TTN) | XP_024308867.1:p.Pro16193Ser | |
| XM_024453100.1:c.38431C>T (TTN) | XP_024308868.1:p.Pro12811Ser |