Linked Data
ClinVar Variation Id:
519084
ClinVar RCV Id:
RCV001129495
RCV001129496
RCV000621164
RCV001132226
RCV001132227
RCV001132228
RCV001496580
dbSNP Id:
rs377521708
ExAC:
2:179412777 A / G
gnomAD v2:
2-179412777-A-G
gnomAD v3:
2-178548050-A-G
gnomAD v4:
2-178548050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548050A>G , CM000664.2:g.178548050A>G | GRCh38 |
| NC_000002.11:g.179412777A>G , CM000664.1:g.179412777A>G | GRCh37 |
| NC_000002.10:g.179121023A>G | NCBI36 |
| NG_011618.3:g.287753T>C , LRG_391:g.287753T>C | |
| NG_051363.1:g.30224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85872T>C (TTN) | ENSP00000343764.6:p.Ala28624= | |
| ENST00000342175.11:c.66957T>C (TTN) | ENSP00000340554.6:p.Ala22319= | |
| ENST00000359218.10:c.66756T>C (TTN) | ENSP00000352154.5:p.Ala22252= | |
| ENST00000342175.10:c.66957T>C (TTN) | ENSP00000340554.6:p.Ala22319= | |
| ENST00000342992.10:c.85872T>C (TTN) | ENSP00000343764.6:p.Ala28624= | |
| ENST00000359218.9:c.66756T>C (TTN) | ENSP00000352154.5:p.Ala22252= | |
| ENST00000460472.6:c.66381T>C (TTN) | ENSP00000434586.1:p.Ala22127= | |
| ENST00000589042.5:c.93576T>C (TTN) MANE Select | ENSP00000467141.1:p.Ala31192= | |
| ENST00000591111.5:c.88653T>C (TTN) | ENSP00000465570.1:p.Ala29551= | |
| ENST00000615779.4:c.88653T>C (TTN) | ENSP00000483597.1:p.Ala29551= | |
| NM_001256850.1:c.88653T>C (TTN) | NP_001243779.1:p.Ala29551= | |
| NM_001267550.2:c.93576T>C (TTN) MANE Select | NP_001254479.2:p.Ala31192= | |
| NM_003319.4:c.66381T>C (TTN) | NP_003310.4:p.Ala22127= | |
| NM_133378.4:c.85872T>C (TTN) | NP_596869.4:p.Ala28624= | |
| NM_133432.3:c.66756T>C (TTN) | NP_597676.3:p.Ala22252= | |
| NM_133437.4:c.66957T>C (TTN) | NP_597681.4:p.Ala22319= | |
| NR_038271.1:n.447-23250A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+5689A>G (TTN-AS1) | ||
| XM_011511729.1:c.92673T>C (TTN) | XP_011510031.1:p.Ala30891= | |
| XM_011511730.1:c.66567T>C (TTN) | XP_011510032.1:p.Ala22189= | |
| XM_011511731.1:c.66426T>C (TTN) | XP_011510033.1:p.Ala22142= | |
| XM_017004819.1:c.92469T>C (TTN) | XP_016860308.1:p.Ala30823= | |
| XM_017004820.1:c.87867T>C (TTN) | XP_016860309.1:p.Ala29289= | |
| XM_017004821.1:c.87864T>C (TTN) | XP_016860310.1:p.Ala29288= | |
| XM_017004822.1:c.84906T>C (TTN) | XP_016860311.1:p.Ala28302= | |
| XM_017004823.1:c.66522T>C (TTN) | XP_016860312.1:p.Ala22174= | |
| XM_024453094.1:c.88017T>C (TTN) | XP_024308862.1:p.Ala29339= | |
| XM_024453095.1:c.88014T>C (TTN) | XP_024308863.1:p.Ala29338= | |
| XM_024453096.1:c.87447T>C (TTN) | XP_024308864.1:p.Ala29149= | |
| XM_024453097.1:c.84789T>C (TTN) | XP_024308865.1:p.Ala28263= | |
| XM_024453098.1:c.84708T>C (TTN) | XP_024308866.1:p.Ala28236= | |
| XM_024453099.1:c.66471T>C (TTN) | XP_024308867.1:p.Ala22157= | |
| XM_024453100.1:c.56325T>C (TTN) | XP_024308868.1:p.Ala18775= |