Linked Data
ClinVar Variation Id:
264601
ClinVar RCV Id:
RCV000242541
RCV000643435
RCV001131515
RCV001131516
RCV001131517
RCV000596820
RCV001128850
RCV001131514
dbSNP Id:
rs370887455
ExAC:
2:179454860 C / T
gnomAD v2:
2-179454860-C-T
gnomAD v3:
2-178590133-C-T
gnomAD v4:
2-178590133-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590133C>T , CM000664.2:g.178590133C>T | GRCh38 |
| NC_000002.11:g.179454860C>T , CM000664.1:g.179454860C>T | GRCh37 |
| NC_000002.10:g.179163106C>T | NCBI36 |
| NG_011618.3:g.245670G>A , LRG_391:g.245670G>A | |
| NG_051363.1:g.72307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53888G>A (TTN) | ENSP00000343764.6:p.Arg17963His | |
| ENST00000342175.11:c.34973G>A (TTN) | ENSP00000340554.6:p.Arg11658His | |
| ENST00000359218.10:c.34772G>A (TTN) | ENSP00000352154.5:p.Arg11591His | |
| ENST00000342175.10:c.34973G>A (TTN) | ENSP00000340554.6:p.Arg11658His | |
| ENST00000342992.10:c.53888G>A (TTN) | ENSP00000343764.6:p.Arg17963His | |
| ENST00000359218.9:c.34772G>A (TTN) | ENSP00000352154.5:p.Arg11591His | |
| ENST00000460472.6:c.34397G>A (TTN) | ENSP00000434586.1:p.Arg11466His | |
| ENST00000589042.5:c.61592G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20531His | |
| ENST00000591111.5:c.56669G>A (TTN) | ENSP00000465570.1:p.Arg18890His | |
| ENST00000615779.4:c.56669G>A (TTN) | ENSP00000483597.1:p.Arg18890His | |
| NM_001256850.1:c.56669G>A (TTN) | NP_001243779.1:p.Arg18890His | |
| NM_001267550.2:c.61592G>A (TTN) MANE Select | NP_001254479.2:p.Arg20531His | |
| NM_003319.4:c.34397G>A (TTN) | NP_003310.4:p.Arg11466His | |
| NM_133378.4:c.53888G>A (TTN) | NP_596869.4:p.Arg17963His | |
| NM_133432.3:c.34772G>A (TTN) | NP_597676.3:p.Arg11591His | |
| NM_133437.4:c.34973G>A (TTN) | NP_597681.4:p.Arg11658His | |
| NR_038271.1:n.597-7463C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1006C>T (TTN-AS1) | ||
| XM_011511729.1:c.60689G>A (TTN) | XP_011510031.1:p.Arg20230His | |
| XM_011511730.1:c.34583G>A (TTN) | XP_011510032.1:p.Arg11528His | |
| XM_011511731.1:c.34442G>A (TTN) | XP_011510033.1:p.Arg11481His | |
| XM_017004819.1:c.60485G>A (TTN) | XP_016860308.1:p.Arg20162His | |
| XM_017004820.1:c.55883G>A (TTN) | XP_016860309.1:p.Arg18628His | |
| XM_017004821.1:c.55880G>A (TTN) | XP_016860310.1:p.Arg18627His | |
| XM_017004822.1:c.52922G>A (TTN) | XP_016860311.1:p.Arg17641His | |
| XM_017004823.1:c.34538G>A (TTN) | XP_016860312.1:p.Arg11513His | |
| XM_024453094.1:c.56033G>A (TTN) | XP_024308862.1:p.Arg18678His | |
| XM_024453095.1:c.56030G>A (TTN) | XP_024308863.1:p.Arg18677His | |
| XM_024453096.1:c.55463G>A (TTN) | XP_024308864.1:p.Arg18488His | |
| XM_024453097.1:c.52805G>A (TTN) | XP_024308865.1:p.Arg17602His | |
| XM_024453098.1:c.52724G>A (TTN) | XP_024308866.1:p.Arg17575His | |
| XM_024453099.1:c.34487G>A (TTN) | XP_024308867.1:p.Arg11496His | |
| XM_024453100.1:c.24341G>A (TTN) | XP_024308868.1:p.Arg8114His |