Linked Data
ClinVar Variation Id:
165887
ClinVar RCV Id:
RCV000152250
RCV000229659
RCV000733490
RCV001132865
RCV001136277
RCV001132866
RCV001132863
RCV001132864
RCV002372001
dbSNP Id:
rs371081043
ExAC:
2:179446504 T / A
gnomAD v2:
2-179446504-T-A
gnomAD v3:
2-178581777-T-A
gnomAD v4:
2-178581777-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581777T>A , CM000664.2:g.178581777T>A | GRCh38 |
| NC_000002.11:g.179446504T>A , CM000664.1:g.179446504T>A | GRCh37 |
| NC_000002.10:g.179154750T>A | NCBI36 |
| NG_011618.3:g.254026A>T , LRG_391:g.254026A>T | |
| NG_051363.1:g.63951T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58787A>T (TTN) | ENSP00000343764.6:p.Lys19596Ile | |
| ENST00000342175.11:c.39872A>T (TTN) | ENSP00000340554.6:p.Lys13291Ile | |
| ENST00000359218.10:c.39671A>T (TTN) | ENSP00000352154.5:p.Lys13224Ile | |
| ENST00000342175.10:c.39872A>T (TTN) | ENSP00000340554.6:p.Lys13291Ile | |
| ENST00000342992.10:c.58787A>T (TTN) | ENSP00000343764.6:p.Lys19596Ile | |
| ENST00000359218.9:c.39671A>T (TTN) | ENSP00000352154.5:p.Lys13224Ile | |
| ENST00000460472.6:c.39296A>T (TTN) | ENSP00000434586.1:p.Lys13099Ile | |
| ENST00000589042.5:c.66491A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys22164Ile | |
| ENST00000591111.5:c.61568A>T (TTN) | ENSP00000465570.1:p.Lys20523Ile | |
| ENST00000615779.4:c.61568A>T (TTN) | ENSP00000483597.1:p.Lys20523Ile | |
| NM_001256850.1:c.61568A>T (TTN) | NP_001243779.1:p.Lys20523Ile | |
| NM_001267550.2:c.66491A>T (TTN) MANE Select | NP_001254479.2:p.Lys22164Ile | |
| NM_003319.4:c.39296A>T (TTN) | NP_003310.4:p.Lys13099Ile | |
| NM_133378.4:c.58787A>T (TTN) | NP_596869.4:p.Lys19596Ile | |
| NM_133432.3:c.39671A>T (TTN) | NP_597676.3:p.Lys13224Ile | |
| NM_133437.4:c.39872A>T (TTN) | NP_597681.4:p.Lys13291Ile | |
| NR_038271.1:n.596+10328T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-795T>A (TTN-AS1) | ||
| XM_011511729.1:c.65588A>T (TTN) | XP_011510031.1:p.Lys21863Ile | |
| XM_011511730.1:c.39482A>T (TTN) | XP_011510032.1:p.Lys13161Ile | |
| XM_011511731.1:c.39341A>T (TTN) | XP_011510033.1:p.Lys13114Ile | |
| XM_017004819.1:c.65384A>T (TTN) | XP_016860308.1:p.Lys21795Ile | |
| XM_017004820.1:c.60782A>T (TTN) | XP_016860309.1:p.Lys20261Ile | |
| XM_017004821.1:c.60779A>T (TTN) | XP_016860310.1:p.Lys20260Ile | |
| XM_017004822.1:c.57821A>T (TTN) | XP_016860311.1:p.Lys19274Ile | |
| XM_017004823.1:c.39437A>T (TTN) | XP_016860312.1:p.Lys13146Ile | |
| XM_024453094.1:c.60932A>T (TTN) | XP_024308862.1:p.Lys20311Ile | |
| XM_024453095.1:c.60929A>T (TTN) | XP_024308863.1:p.Lys20310Ile | |
| XM_024453096.1:c.60362A>T (TTN) | XP_024308864.1:p.Lys20121Ile | |
| XM_024453097.1:c.57704A>T (TTN) | XP_024308865.1:p.Lys19235Ile | |
| XM_024453098.1:c.57623A>T (TTN) | XP_024308866.1:p.Lys19208Ile | |
| XM_024453099.1:c.39386A>T (TTN) | XP_024308867.1:p.Lys13129Ile | |
| XM_024453100.1:c.29240A>T (TTN) | XP_024308868.1:p.Lys9747Ile |