Linked Data
ClinVar Variation Id:
191950
ClinVar RCV Id:
RCV000172318
RCV000290799
RCV000289489
RCV000342229
RCV000381631
RCV000387541
RCV002415735
RCV002469044
dbSNP Id:
rs768914789
ExAC:
2:179478643 C / T
gnomAD v2:
2-179478643-C-T
gnomAD v3:
2-178613916-C-T
gnomAD v4:
2-178613916-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613916C>T , CM000664.2:g.178613916C>T | GRCh38 |
| NC_000002.11:g.179478643C>T , CM000664.1:g.179478643C>T | GRCh37 |
| NC_000002.10:g.179186888C>T | NCBI36 |
| NG_011618.3:g.221887G>A , LRG_391:g.221887G>A | |
| NG_051363.1:g.96090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41663G>A (TTN) | ENSP00000343764.6:p.Arg13888His | |
| ENST00000342175.11:c.22748G>A (TTN) | ENSP00000340554.6:p.Arg7583His | |
| ENST00000359218.10:c.22547G>A (TTN) | ENSP00000352154.5:p.Arg7516His | |
| ENST00000342175.10:c.22748G>A (TTN) | ENSP00000340554.6:p.Arg7583His | |
| ENST00000342992.10:c.41663G>A (TTN) | ENSP00000343764.6:p.Arg13888His | |
| ENST00000359218.9:c.22547G>A (TTN) | ENSP00000352154.5:p.Arg7516His | |
| ENST00000460472.6:c.22172G>A (TTN) | ENSP00000434586.1:p.Arg7391His | |
| ENST00000589042.5:c.49367G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16456His | |
| ENST00000591111.5:c.44444G>A (TTN) | ENSP00000465570.1:p.Arg14815His | |
| ENST00000615779.4:c.44444G>A (TTN) | ENSP00000483597.1:p.Arg14815His | |
| NM_001256850.1:c.44444G>A (TTN) | NP_001243779.1:p.Arg14815His | |
| NM_001267550.2:c.49367G>A (TTN) MANE Select | NP_001254479.2:p.Arg16456His | |
| NM_003319.4:c.22172G>A (TTN) | NP_003310.4:p.Arg7391His | |
| NM_133378.4:c.41663G>A (TTN) | NP_596869.4:p.Arg13888His | |
| NM_133432.3:c.22547G>A (TTN) | NP_597676.3:p.Arg7516His | |
| NM_133437.4:c.22748G>A (TTN) | NP_597681.4:p.Arg7583His | |
| NR_038271.1:n.783-119C>T (TTN-AS1) | ||
| XM_011511729.1:c.48464G>A (TTN) | XP_011510031.1:p.Arg16155His | |
| XM_011511730.1:c.22358G>A (TTN) | XP_011510032.1:p.Arg7453His | |
| XM_011511731.1:c.22217G>A (TTN) | XP_011510033.1:p.Arg7406His | |
| XM_017004819.1:c.48260G>A (TTN) | XP_016860308.1:p.Arg16087His | |
| XM_017004820.1:c.43658G>A (TTN) | XP_016860309.1:p.Arg14553His | |
| XM_017004821.1:c.43655G>A (TTN) | XP_016860310.1:p.Arg14552His | |
| XM_017004822.1:c.40697G>A (TTN) | XP_016860311.1:p.Arg13566His | |
| XM_017004823.1:c.22313G>A (TTN) | XP_016860312.1:p.Arg7438His | |
| XM_024453094.1:c.43808G>A (TTN) | XP_024308862.1:p.Arg14603His | |
| XM_024453095.1:c.43805G>A (TTN) | XP_024308863.1:p.Arg14602His | |
| XM_024453096.1:c.43238G>A (TTN) | XP_024308864.1:p.Arg14413His | |
| XM_024453097.1:c.40580G>A (TTN) | XP_024308865.1:p.Arg13527His | |
| XM_024453098.1:c.40499G>A (TTN) | XP_024308866.1:p.Arg13500His | |
| XM_024453099.1:c.22262G>A (TTN) | XP_024308867.1:p.Arg7421His | |
| XM_024453100.1:c.12116G>A (TTN) | XP_024308868.1:p.Arg4039His |