Linked Data
ClinVar Variation Id:
264456
dbSNP Id:
rs371422299
ExAC:
2:179459361 C / T
gnomAD v2:
2-179459361-C-T
gnomAD v3:
2-178594634-C-T
gnomAD v4:
2-178594634-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594634C>T , CM000664.2:g.178594634C>T | GRCh38 |
| NC_000002.11:g.179459361C>T , CM000664.1:g.179459361C>T | GRCh37 |
| NC_000002.10:g.179167607C>T | NCBI36 |
| NG_011618.3:g.241169G>A , LRG_391:g.241169G>A | |
| NG_051363.1:g.76808C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50156G>A (TTN) | ENSP00000343764.6:p.Arg16719His | |
| ENST00000342175.11:c.31241G>A (TTN) | ENSP00000340554.6:p.Arg10414His | |
| ENST00000359218.10:c.31040G>A (TTN) | ENSP00000352154.5:p.Arg10347His | |
| ENST00000342175.10:c.31241G>A (TTN) | ENSP00000340554.6:p.Arg10414His | |
| ENST00000342992.10:c.50156G>A (TTN) | ENSP00000343764.6:p.Arg16719His | |
| ENST00000359218.9:c.31040G>A (TTN) | ENSP00000352154.5:p.Arg10347His | |
| ENST00000460472.6:c.30665G>A (TTN) | ENSP00000434586.1:p.Arg10222His | |
| ENST00000589042.5:c.57860G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg19287His | |
| ENST00000591111.5:c.52937G>A (TTN) | ENSP00000465570.1:p.Arg17646His | |
| ENST00000615779.4:c.52937G>A (TTN) | ENSP00000483597.1:p.Arg17646His | |
| NM_001256850.1:c.52937G>A (TTN) | NP_001243779.1:p.Arg17646His | |
| NM_001267550.2:c.57860G>A (TTN) MANE Select | NP_001254479.2:p.Arg19287His | |
| NM_003319.4:c.30665G>A (TTN) | NP_003310.4:p.Arg10222His | |
| NM_133378.4:c.50156G>A (TTN) | NP_596869.4:p.Arg16719His | |
| NM_133432.3:c.31040G>A (TTN) | NP_597676.3:p.Arg10347His | |
| NM_133437.4:c.31241G>A (TTN) | NP_597681.4:p.Arg10414His | |
| NR_038271.1:n.597-2962C>T (TTN-AS1) | ||
| NR_038272.1:n.3365-2962C>T (TTN-AS1) | ||
| XM_011511729.1:c.56957G>A (TTN) | XP_011510031.1:p.Arg18986His | |
| XM_011511730.1:c.30851G>A (TTN) | XP_011510032.1:p.Arg10284His | |
| XM_011511731.1:c.30710G>A (TTN) | XP_011510033.1:p.Arg10237His | |
| XM_017004819.1:c.56753G>A (TTN) | XP_016860308.1:p.Arg18918His | |
| XM_017004820.1:c.52151G>A (TTN) | XP_016860309.1:p.Arg17384His | |
| XM_017004821.1:c.52148G>A (TTN) | XP_016860310.1:p.Arg17383His | |
| XM_017004822.1:c.49190G>A (TTN) | XP_016860311.1:p.Arg16397His | |
| XM_017004823.1:c.30806G>A (TTN) | XP_016860312.1:p.Arg10269His | |
| XM_024453094.1:c.52301G>A (TTN) | XP_024308862.1:p.Arg17434His | |
| XM_024453095.1:c.52298G>A (TTN) | XP_024308863.1:p.Arg17433His | |
| XM_024453096.1:c.51731G>A (TTN) | XP_024308864.1:p.Arg17244His | |
| XM_024453097.1:c.49073G>A (TTN) | XP_024308865.1:p.Arg16358His | |
| XM_024453098.1:c.48992G>A (TTN) | XP_024308866.1:p.Arg16331His | |
| XM_024453099.1:c.30755G>A (TTN) | XP_024308867.1:p.Arg10252His | |
| XM_024453100.1:c.20609G>A (TTN) | XP_024308868.1:p.Arg6870His |