Linked Data
ClinVar Variation Id:
467517
dbSNP Id:
rs199646089
ExAC:
2:179431945 G / C
gnomAD v2:
2-179431945-G-C
gnomAD v3:
2-178567218-G-C
gnomAD v4:
2-178567218-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567218G>C , CM000664.2:g.178567218G>C | GRCh38 |
| NC_000002.11:g.179431945G>C , CM000664.1:g.179431945G>C | GRCh37 |
| NC_000002.10:g.179140191G>C | NCBI36 |
| NG_011618.3:g.268585C>G , LRG_391:g.268585C>G | |
| NG_051363.1:g.49392G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71210C>G (TTN) | ENSP00000343764.6:p.Ser23737Cys | |
| ENST00000342175.11:c.52295C>G (TTN) | ENSP00000340554.6:p.Ser17432Cys | |
| ENST00000359218.10:c.52094C>G (TTN) | ENSP00000352154.5:p.Ser17365Cys | |
| ENST00000342175.10:c.52295C>G (TTN) | ENSP00000340554.6:p.Ser17432Cys | |
| ENST00000342992.10:c.71210C>G (TTN) | ENSP00000343764.6:p.Ser23737Cys | |
| ENST00000359218.9:c.52094C>G (TTN) | ENSP00000352154.5:p.Ser17365Cys | |
| ENST00000460472.6:c.51719C>G (TTN) | ENSP00000434586.1:p.Ser17240Cys | |
| ENST00000589042.5:c.78914C>G (TTN) MANE Select | ENSP00000467141.1:p.Ser26305Cys | |
| ENST00000591111.5:c.73991C>G (TTN) | ENSP00000465570.1:p.Ser24664Cys | |
| ENST00000615779.4:c.73991C>G (TTN) | ENSP00000483597.1:p.Ser24664Cys | |
| NM_001256850.1:c.73991C>G (TTN) | NP_001243779.1:p.Ser24664Cys | |
| NM_001267550.2:c.78914C>G (TTN) MANE Select | NP_001254479.2:p.Ser26305Cys | |
| NM_003319.4:c.51719C>G (TTN) | NP_003310.4:p.Ser17240Cys | |
| NM_133378.4:c.71210C>G (TTN) | NP_596869.4:p.Ser23737Cys | |
| NM_133432.3:c.52094C>G (TTN) | NP_597676.3:p.Ser17365Cys | |
| NM_133437.4:c.52295C>G (TTN) | NP_597681.4:p.Ser17432Cys | |
| NR_038271.1:n.447-4082G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-15354G>C (TTN-AS1) | ||
| XM_011511729.1:c.78011C>G (TTN) | XP_011510031.1:p.Ser26004Cys | |
| XM_011511730.1:c.51905C>G (TTN) | XP_011510032.1:p.Ser17302Cys | |
| XM_011511731.1:c.51764C>G (TTN) | XP_011510033.1:p.Ser17255Cys | |
| XM_017004819.1:c.77807C>G (TTN) | XP_016860308.1:p.Ser25936Cys | |
| XM_017004820.1:c.73205C>G (TTN) | XP_016860309.1:p.Ser24402Cys | |
| XM_017004821.1:c.73202C>G (TTN) | XP_016860310.1:p.Ser24401Cys | |
| XM_017004822.1:c.70244C>G (TTN) | XP_016860311.1:p.Ser23415Cys | |
| XM_017004823.1:c.51860C>G (TTN) | XP_016860312.1:p.Ser17287Cys | |
| XM_024453094.1:c.73355C>G (TTN) | XP_024308862.1:p.Ser24452Cys | |
| XM_024453095.1:c.73352C>G (TTN) | XP_024308863.1:p.Ser24451Cys | |
| XM_024453096.1:c.72785C>G (TTN) | XP_024308864.1:p.Ser24262Cys | |
| XM_024453097.1:c.70127C>G (TTN) | XP_024308865.1:p.Ser23376Cys | |
| XM_024453098.1:c.70046C>G (TTN) | XP_024308866.1:p.Ser23349Cys | |
| XM_024453099.1:c.51809C>G (TTN) | XP_024308867.1:p.Ser17270Cys | |
| XM_024453100.1:c.41663C>G (TTN) | XP_024308868.1:p.Ser13888Cys |