Linked Data
ClinVar Variation Id:
501556
ClinVar RCV Id:
RCV000852520
RCV000597287
RCV001129851
RCV001134845
RCV001129852
RCV001129853
RCV001134844
RCV001798914
RCV002456311
dbSNP Id:
rs773035917
ExAC:
2:179474438 G / A
gnomAD v2:
2-179474438-G-A
gnomAD v3:
2-178609711-G-A
gnomAD v4:
2-178609711-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609711G>A , CM000664.2:g.178609711G>A | GRCh38 |
| NC_000002.11:g.179474438G>A , CM000664.1:g.179474438G>A | GRCh37 |
| NC_000002.10:g.179182683G>A | NCBI36 |
| NG_011618.3:g.226092C>T , LRG_391:g.226092C>T | |
| NG_051363.1:g.91885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44008C>T (TTN) | ENSP00000343764.6:p.Pro14670Ser | |
| ENST00000342175.11:c.25093C>T (TTN) | ENSP00000340554.6:p.Pro8365Ser | |
| ENST00000359218.10:c.24892C>T (TTN) | ENSP00000352154.5:p.Pro8298Ser | |
| ENST00000342175.10:c.25093C>T (TTN) | ENSP00000340554.6:p.Pro8365Ser | |
| ENST00000342992.10:c.44008C>T (TTN) | ENSP00000343764.6:p.Pro14670Ser | |
| ENST00000359218.9:c.24892C>T (TTN) | ENSP00000352154.5:p.Pro8298Ser | |
| ENST00000460472.6:c.24517C>T (TTN) | ENSP00000434586.1:p.Pro8173Ser | |
| ENST00000589042.5:c.51712C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro17238Ser | |
| ENST00000591111.5:c.46789C>T (TTN) | ENSP00000465570.1:p.Pro15597Ser | |
| ENST00000615779.4:c.46789C>T (TTN) | ENSP00000483597.1:p.Pro15597Ser | |
| NM_001256850.1:c.46789C>T (TTN) | NP_001243779.1:p.Pro15597Ser | |
| NM_001267550.2:c.51712C>T (TTN) MANE Select | NP_001254479.2:p.Pro17238Ser | |
| NM_003319.4:c.24517C>T (TTN) | NP_003310.4:p.Pro8173Ser | |
| NM_133378.4:c.44008C>T (TTN) | NP_596869.4:p.Pro14670Ser | |
| NM_133432.3:c.24892C>T (TTN) | NP_597676.3:p.Pro8298Ser | |
| NM_133437.4:c.25093C>T (TTN) | NP_597681.4:p.Pro8365Ser | |
| NR_038271.1:n.782+1445G>A (TTN-AS1) | ||
| XM_011511729.1:c.50809C>T (TTN) | XP_011510031.1:p.Pro16937Ser | |
| XM_011511730.1:c.24703C>T (TTN) | XP_011510032.1:p.Pro8235Ser | |
| XM_011511731.1:c.24562C>T (TTN) | XP_011510033.1:p.Pro8188Ser | |
| XM_017004819.1:c.50605C>T (TTN) | XP_016860308.1:p.Pro16869Ser | |
| XM_017004820.1:c.46003C>T (TTN) | XP_016860309.1:p.Pro15335Ser | |
| XM_017004821.1:c.46000C>T (TTN) | XP_016860310.1:p.Pro15334Ser | |
| XM_017004822.1:c.43042C>T (TTN) | XP_016860311.1:p.Pro14348Ser | |
| XM_017004823.1:c.24658C>T (TTN) | XP_016860312.1:p.Pro8220Ser | |
| XM_024453094.1:c.46153C>T (TTN) | XP_024308862.1:p.Pro15385Ser | |
| XM_024453095.1:c.46150C>T (TTN) | XP_024308863.1:p.Pro15384Ser | |
| XM_024453096.1:c.45583C>T (TTN) | XP_024308864.1:p.Pro15195Ser | |
| XM_024453097.1:c.42925C>T (TTN) | XP_024308865.1:p.Pro14309Ser | |
| XM_024453098.1:c.42844C>T (TTN) | XP_024308866.1:p.Pro14282Ser | |
| XM_024453099.1:c.24607C>T (TTN) | XP_024308867.1:p.Pro8203Ser | |
| XM_024453100.1:c.14461C>T (TTN) | XP_024308868.1:p.Pro4821Ser |