Linked Data
ClinVar Variation Id:
263747
ClinVar RCV Id:
RCV000243596
RCV000595855
RCV001079165
RCV001134001
RCV001131042
RCV001133998
RCV001133999
RCV001134000
dbSNP Id:
rs749308557
ExAC:
2:179478615 G / A
gnomAD v2:
2-179478615-G-A
gnomAD v3:
2-178613888-G-A
gnomAD v4:
2-178613888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613888G>A , CM000664.2:g.178613888G>A | GRCh38 |
| NC_000002.11:g.179478615G>A , CM000664.1:g.179478615G>A | GRCh37 |
| NC_000002.10:g.179186860G>A | NCBI36 |
| NG_011618.3:g.221915C>T , LRG_391:g.221915C>T | |
| NG_051363.1:g.96062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41691C>T (TTN) | ENSP00000343764.6:p.Asp13897= | |
| ENST00000342175.11:c.22776C>T (TTN) | ENSP00000340554.6:p.Asp7592= | |
| ENST00000359218.10:c.22575C>T (TTN) | ENSP00000352154.5:p.Asp7525= | |
| ENST00000342175.10:c.22776C>T (TTN) | ENSP00000340554.6:p.Asp7592= | |
| ENST00000342992.10:c.41691C>T (TTN) | ENSP00000343764.6:p.Asp13897= | |
| ENST00000359218.9:c.22575C>T (TTN) | ENSP00000352154.5:p.Asp7525= | |
| ENST00000460472.6:c.22200C>T (TTN) | ENSP00000434586.1:p.Asp7400= | |
| ENST00000589042.5:c.49395C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp16465= | |
| ENST00000591111.5:c.44472C>T (TTN) | ENSP00000465570.1:p.Asp14824= | |
| ENST00000615779.4:c.44472C>T (TTN) | ENSP00000483597.1:p.Asp14824= | |
| NM_001256850.1:c.44472C>T (TTN) | NP_001243779.1:p.Asp14824= | |
| NM_001267550.2:c.49395C>T (TTN) MANE Select | NP_001254479.2:p.Asp16465= | |
| NM_003319.4:c.22200C>T (TTN) | NP_003310.4:p.Asp7400= | |
| NM_133378.4:c.41691C>T (TTN) | NP_596869.4:p.Asp13897= | |
| NM_133432.3:c.22575C>T (TTN) | NP_597676.3:p.Asp7525= | |
| NM_133437.4:c.22776C>T (TTN) | NP_597681.4:p.Asp7592= | |
| NR_038271.1:n.783-147G>A (TTN-AS1) | ||
| XM_011511729.1:c.48492C>T (TTN) | XP_011510031.1:p.Asp16164= | |
| XM_011511730.1:c.22386C>T (TTN) | XP_011510032.1:p.Asp7462= | |
| XM_011511731.1:c.22245C>T (TTN) | XP_011510033.1:p.Asp7415= | |
| XM_017004819.1:c.48288C>T (TTN) | XP_016860308.1:p.Asp16096= | |
| XM_017004820.1:c.43686C>T (TTN) | XP_016860309.1:p.Asp14562= | |
| XM_017004821.1:c.43683C>T (TTN) | XP_016860310.1:p.Asp14561= | |
| XM_017004822.1:c.40725C>T (TTN) | XP_016860311.1:p.Asp13575= | |
| XM_017004823.1:c.22341C>T (TTN) | XP_016860312.1:p.Asp7447= | |
| XM_024453094.1:c.43836C>T (TTN) | XP_024308862.1:p.Asp14612= | |
| XM_024453095.1:c.43833C>T (TTN) | XP_024308863.1:p.Asp14611= | |
| XM_024453096.1:c.43266C>T (TTN) | XP_024308864.1:p.Asp14422= | |
| XM_024453097.1:c.40608C>T (TTN) | XP_024308865.1:p.Asp13536= | |
| XM_024453098.1:c.40527C>T (TTN) | XP_024308866.1:p.Asp13509= | |
| XM_024453099.1:c.22290C>T (TTN) | XP_024308867.1:p.Asp7430= | |
| XM_024453100.1:c.12144C>T (TTN) | XP_024308868.1:p.Asp4048= |