Linked Data
ClinVar Variation Id:
283488
ClinVar RCV Id:
RCV000337689
RCV000282260
RCV000302673
RCV000394206
RCV000318089
RCV000336131
RCV000619450
RCV000863478
RCV001798770
dbSNP Id:
rs373526624
ExAC:
2:179471822 C / T
gnomAD v2:
2-179471822-C-T
gnomAD v3:
2-178607095-C-T
gnomAD v4:
2-178607095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607095C>T , CM000664.2:g.178607095C>T | GRCh38 |
| NC_000002.11:g.179471822C>T , CM000664.1:g.179471822C>T | GRCh37 |
| NC_000002.10:g.179180067C>T | NCBI36 |
| NG_011618.3:g.228708G>A , LRG_391:g.228708G>A | |
| NG_051363.1:g.89269C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45803G>A (TTN) | ENSP00000343764.6:p.Arg15268His | |
| ENST00000342175.11:c.26888G>A (TTN) | ENSP00000340554.6:p.Arg8963His | |
| ENST00000359218.10:c.26687G>A (TTN) | ENSP00000352154.5:p.Arg8896His | |
| ENST00000342175.10:c.26888G>A (TTN) | ENSP00000340554.6:p.Arg8963His | |
| ENST00000342992.10:c.45803G>A (TTN) | ENSP00000343764.6:p.Arg15268His | |
| ENST00000359218.9:c.26687G>A (TTN) | ENSP00000352154.5:p.Arg8896His | |
| ENST00000460472.6:c.26312G>A (TTN) | ENSP00000434586.1:p.Arg8771His | |
| ENST00000589042.5:c.53507G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17836His | |
| ENST00000591111.5:c.48584G>A (TTN) | ENSP00000465570.1:p.Arg16195His | |
| ENST00000615779.4:c.48584G>A (TTN) | ENSP00000483597.1:p.Arg16195His | |
| NM_001256850.1:c.48584G>A (TTN) | NP_001243779.1:p.Arg16195His | |
| NM_001267550.2:c.53507G>A (TTN) MANE Select | NP_001254479.2:p.Arg17836His | |
| NM_003319.4:c.26312G>A (TTN) | NP_003310.4:p.Arg8771His | |
| NM_133378.4:c.45803G>A (TTN) | NP_596869.4:p.Arg15268His | |
| NM_133432.3:c.26687G>A (TTN) | NP_597676.3:p.Arg8896His | |
| NM_133437.4:c.26888G>A (TTN) | NP_597681.4:p.Arg8963His | |
| NR_038271.1:n.683-1072C>T (TTN-AS1) | ||
| XM_011511729.1:c.52604G>A (TTN) | XP_011510031.1:p.Arg17535His | |
| XM_011511730.1:c.26498G>A (TTN) | XP_011510032.1:p.Arg8833His | |
| XM_011511731.1:c.26357G>A (TTN) | XP_011510033.1:p.Arg8786His | |
| XM_017004819.1:c.52400G>A (TTN) | XP_016860308.1:p.Arg17467His | |
| XM_017004820.1:c.47798G>A (TTN) | XP_016860309.1:p.Arg15933His | |
| XM_017004821.1:c.47795G>A (TTN) | XP_016860310.1:p.Arg15932His | |
| XM_017004822.1:c.44837G>A (TTN) | XP_016860311.1:p.Arg14946His | |
| XM_017004823.1:c.26453G>A (TTN) | XP_016860312.1:p.Arg8818His | |
| XM_024453094.1:c.47948G>A (TTN) | XP_024308862.1:p.Arg15983His | |
| XM_024453095.1:c.47945G>A (TTN) | XP_024308863.1:p.Arg15982His | |
| XM_024453096.1:c.47378G>A (TTN) | XP_024308864.1:p.Arg15793His | |
| XM_024453097.1:c.44720G>A (TTN) | XP_024308865.1:p.Arg14907His | |
| XM_024453098.1:c.44639G>A (TTN) | XP_024308866.1:p.Arg14880His | |
| XM_024453099.1:c.26402G>A (TTN) | XP_024308867.1:p.Arg8801His | |
| XM_024453100.1:c.16256G>A (TTN) | XP_024308868.1:p.Arg5419His |