Linked Data
ClinVar Variation Id:
165824
ClinVar RCV Id:
RCV000152211
RCV000299956
RCV000287130
RCV000345493
RCV000379204
RCV000339540
RCV000725001
RCV001079314
RCV002336301
RCV003149924
dbSNP Id:
rs139953862
ExAC:
2:179432004 A / G
gnomAD v2:
2-179432004-A-G
gnomAD v3:
2-178567277-A-G
gnomAD v4:
2-178567277-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567277A>G , CM000664.2:g.178567277A>G | GRCh38 |
| NC_000002.11:g.179432004A>G , CM000664.1:g.179432004A>G | GRCh37 |
| NC_000002.10:g.179140250A>G | NCBI36 |
| NG_011618.3:g.268526T>C , LRG_391:g.268526T>C | |
| NG_051363.1:g.49451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71151T>C (TTN) | ENSP00000343764.6:p.Asp23717= | |
| ENST00000342175.11:c.52236T>C (TTN) | ENSP00000340554.6:p.Asp17412= | |
| ENST00000359218.10:c.52035T>C (TTN) | ENSP00000352154.5:p.Asp17345= | |
| ENST00000342175.10:c.52236T>C (TTN) | ENSP00000340554.6:p.Asp17412= | |
| ENST00000342992.10:c.71151T>C (TTN) | ENSP00000343764.6:p.Asp23717= | |
| ENST00000359218.9:c.52035T>C (TTN) | ENSP00000352154.5:p.Asp17345= | |
| ENST00000460472.6:c.51660T>C (TTN) | ENSP00000434586.1:p.Asp17220= | |
| ENST00000589042.5:c.78855T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp26285= | |
| ENST00000591111.5:c.73932T>C (TTN) | ENSP00000465570.1:p.Asp24644= | |
| ENST00000615779.4:c.73932T>C (TTN) | ENSP00000483597.1:p.Asp24644= | |
| NM_001256850.1:c.73932T>C (TTN) | NP_001243779.1:p.Asp24644= | |
| NM_001267550.2:c.78855T>C (TTN) MANE Select | NP_001254479.2:p.Asp26285= | |
| NM_003319.4:c.51660T>C (TTN) | NP_003310.4:p.Asp17220= | |
| NM_133378.4:c.71151T>C (TTN) | NP_596869.4:p.Asp23717= | |
| NM_133432.3:c.52035T>C (TTN) | NP_597676.3:p.Asp17345= | |
| NM_133437.4:c.52236T>C (TTN) | NP_597681.4:p.Asp17412= | |
| NR_038271.1:n.447-4023A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-15295A>G (TTN-AS1) | ||
| XM_011511729.1:c.77952T>C (TTN) | XP_011510031.1:p.Asp25984= | |
| XM_011511730.1:c.51846T>C (TTN) | XP_011510032.1:p.Asp17282= | |
| XM_011511731.1:c.51705T>C (TTN) | XP_011510033.1:p.Asp17235= | |
| XM_017004819.1:c.77748T>C (TTN) | XP_016860308.1:p.Asp25916= | |
| XM_017004820.1:c.73146T>C (TTN) | XP_016860309.1:p.Asp24382= | |
| XM_017004821.1:c.73143T>C (TTN) | XP_016860310.1:p.Asp24381= | |
| XM_017004822.1:c.70185T>C (TTN) | XP_016860311.1:p.Asp23395= | |
| XM_017004823.1:c.51801T>C (TTN) | XP_016860312.1:p.Asp17267= | |
| XM_024453094.1:c.73296T>C (TTN) | XP_024308862.1:p.Asp24432= | |
| XM_024453095.1:c.73293T>C (TTN) | XP_024308863.1:p.Asp24431= | |
| XM_024453096.1:c.72726T>C (TTN) | XP_024308864.1:p.Asp24242= | |
| XM_024453097.1:c.70068T>C (TTN) | XP_024308865.1:p.Asp23356= | |
| XM_024453098.1:c.69987T>C (TTN) | XP_024308866.1:p.Asp23329= | |
| XM_024453099.1:c.51750T>C (TTN) | XP_024308867.1:p.Asp17250= | |
| XM_024453100.1:c.41604T>C (TTN) | XP_024308868.1:p.Asp13868= |