Linked Data
ClinVar Variation Id:
332834
ClinVar RCV Id:
RCV000261639
RCV000297342
RCV000356804
RCV000350885
RCV000395016
RCV000868806
RCV001551202
RCV002450900
dbSNP Id:
rs531242797
ExAC:
2:179469867 C / A
gnomAD v2:
2-179469867-C-A
gnomAD v3:
2-178605140-C-A
gnomAD v4:
2-178605140-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605140C>A , CM000664.2:g.178605140C>A | GRCh38 |
| NC_000002.11:g.179469867C>A , CM000664.1:g.179469867C>A | GRCh37 |
| NC_000002.10:g.179178112C>A | NCBI36 |
| NG_011618.3:g.230663G>T , LRG_391:g.230663G>T | |
| NG_051363.1:g.87314C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46333G>T (TTN) | ENSP00000343764.6:p.Ala15445Ser | |
| ENST00000342175.11:c.27418G>T (TTN) | ENSP00000340554.6:p.Ala9140Ser | |
| ENST00000359218.10:c.27217G>T (TTN) | ENSP00000352154.5:p.Ala9073Ser | |
| ENST00000342175.10:c.27418G>T (TTN) | ENSP00000340554.6:p.Ala9140Ser | |
| ENST00000342992.10:c.46333G>T (TTN) | ENSP00000343764.6:p.Ala15445Ser | |
| ENST00000359218.9:c.27217G>T (TTN) | ENSP00000352154.5:p.Ala9073Ser | |
| ENST00000460472.6:c.26842G>T (TTN) | ENSP00000434586.1:p.Ala8948Ser | |
| ENST00000589042.5:c.54037G>T (TTN) MANE Select | ENSP00000467141.1:p.Ala18013Ser | |
| ENST00000591111.5:c.49114G>T (TTN) | ENSP00000465570.1:p.Ala16372Ser | |
| ENST00000615779.4:c.49114G>T (TTN) | ENSP00000483597.1:p.Ala16372Ser | |
| NM_001256850.1:c.49114G>T (TTN) | NP_001243779.1:p.Ala16372Ser | |
| NM_001267550.2:c.54037G>T (TTN) MANE Select | NP_001254479.2:p.Ala18013Ser | |
| NM_003319.4:c.26842G>T (TTN) | NP_003310.4:p.Ala8948Ser | |
| NM_133378.4:c.46333G>T (TTN) | NP_596869.4:p.Ala15445Ser | |
| NM_133432.3:c.27217G>T (TTN) | NP_597676.3:p.Ala9073Ser | |
| NM_133437.4:c.27418G>T (TTN) | NP_597681.4:p.Ala9140Ser | |
| NR_038271.1:n.683-3027C>A (TTN-AS1) | ||
| NR_038272.1:n.4327C>A (TTN-AS1) | ||
| XM_011511729.1:c.53134G>T (TTN) | XP_011510031.1:p.Ala17712Ser | |
| XM_011511730.1:c.27028G>T (TTN) | XP_011510032.1:p.Ala9010Ser | |
| XM_011511731.1:c.26887G>T (TTN) | XP_011510033.1:p.Ala8963Ser | |
| XM_017004819.1:c.52930G>T (TTN) | XP_016860308.1:p.Ala17644Ser | |
| XM_017004820.1:c.48328G>T (TTN) | XP_016860309.1:p.Ala16110Ser | |
| XM_017004821.1:c.48325G>T (TTN) | XP_016860310.1:p.Ala16109Ser | |
| XM_017004822.1:c.45367G>T (TTN) | XP_016860311.1:p.Ala15123Ser | |
| XM_017004823.1:c.26983G>T (TTN) | XP_016860312.1:p.Ala8995Ser | |
| XM_024453094.1:c.48478G>T (TTN) | XP_024308862.1:p.Ala16160Ser | |
| XM_024453095.1:c.48475G>T (TTN) | XP_024308863.1:p.Ala16159Ser | |
| XM_024453096.1:c.47908G>T (TTN) | XP_024308864.1:p.Ala15970Ser | |
| XM_024453097.1:c.45250G>T (TTN) | XP_024308865.1:p.Ala15084Ser | |
| XM_024453098.1:c.45169G>T (TTN) | XP_024308866.1:p.Ala15057Ser | |
| XM_024453099.1:c.26932G>T (TTN) | XP_024308867.1:p.Ala8978Ser | |
| XM_024453100.1:c.16786G>T (TTN) | XP_024308868.1:p.Ala5596Ser |