Linked Data
ClinVar Variation Id:
515667
ClinVar RCV Id:
RCV000613768
RCV001133053
RCV001133054
RCV001133055
RCV001133056
RCV001132127
RCV003139925
RCV003486894
dbSNP Id:
rs201457934
ExAC:
2:179457198 C / T
gnomAD v2:
2-179457198-C-T
gnomAD v3:
2-178592471-C-T
gnomAD v4:
2-178592471-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592471C>T , CM000664.2:g.178592471C>T | GRCh38 |
| NC_000002.11:g.179457198C>T , CM000664.1:g.179457198C>T | GRCh37 |
| NC_000002.10:g.179165444C>T | NCBI36 |
| NG_011618.3:g.243332G>A , LRG_391:g.243332G>A | |
| NG_051363.1:g.74645C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51830G>A (TTN) | ENSP00000343764.6:p.Arg17277His | |
| ENST00000342175.11:c.32915G>A (TTN) | ENSP00000340554.6:p.Arg10972His | |
| ENST00000359218.10:c.32714G>A (TTN) | ENSP00000352154.5:p.Arg10905His | |
| ENST00000342175.10:c.32915G>A (TTN) | ENSP00000340554.6:p.Arg10972His | |
| ENST00000342992.10:c.51830G>A (TTN) | ENSP00000343764.6:p.Arg17277His | |
| ENST00000359218.9:c.32714G>A (TTN) | ENSP00000352154.5:p.Arg10905His | |
| ENST00000460472.6:c.32339G>A (TTN) | ENSP00000434586.1:p.Arg10780His | |
| ENST00000589042.5:c.59534G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg19845His | |
| ENST00000591111.5:c.54611G>A (TTN) | ENSP00000465570.1:p.Arg18204His | |
| ENST00000615779.4:c.54611G>A (TTN) | ENSP00000483597.1:p.Arg18204His | |
| NM_001256850.1:c.54611G>A (TTN) | NP_001243779.1:p.Arg18204His | |
| NM_001267550.2:c.59534G>A (TTN) MANE Select | NP_001254479.2:p.Arg19845His | |
| NM_003319.4:c.32339G>A (TTN) | NP_003310.4:p.Arg10780His | |
| NM_133378.4:c.51830G>A (TTN) | NP_596869.4:p.Arg17277His | |
| NM_133432.3:c.32714G>A (TTN) | NP_597676.3:p.Arg10905His | |
| NM_133437.4:c.32915G>A (TTN) | NP_597681.4:p.Arg10972His | |
| NR_038271.1:n.597-5125C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+1157C>T (TTN-AS1) | ||
| XM_011511729.1:c.58631G>A (TTN) | XP_011510031.1:p.Arg19544His | |
| XM_011511730.1:c.32525G>A (TTN) | XP_011510032.1:p.Arg10842His | |
| XM_011511731.1:c.32384G>A (TTN) | XP_011510033.1:p.Arg10795His | |
| XM_017004819.1:c.58427G>A (TTN) | XP_016860308.1:p.Arg19476His | |
| XM_017004820.1:c.53825G>A (TTN) | XP_016860309.1:p.Arg17942His | |
| XM_017004821.1:c.53822G>A (TTN) | XP_016860310.1:p.Arg17941His | |
| XM_017004822.1:c.50864G>A (TTN) | XP_016860311.1:p.Arg16955His | |
| XM_017004823.1:c.32480G>A (TTN) | XP_016860312.1:p.Arg10827His | |
| XM_024453094.1:c.53975G>A (TTN) | XP_024308862.1:p.Arg17992His | |
| XM_024453095.1:c.53972G>A (TTN) | XP_024308863.1:p.Arg17991His | |
| XM_024453096.1:c.53405G>A (TTN) | XP_024308864.1:p.Arg17802His | |
| XM_024453097.1:c.50747G>A (TTN) | XP_024308865.1:p.Arg16916His | |
| XM_024453098.1:c.50666G>A (TTN) | XP_024308866.1:p.Arg16889His | |
| XM_024453099.1:c.32429G>A (TTN) | XP_024308867.1:p.Arg10810His | |
| XM_024453100.1:c.22283G>A (TTN) | XP_024308868.1:p.Arg7428His |