Linked Data
ClinVar Variation Id:
191940
dbSNP Id:
rs201774108
ExAC:
2:179466069 C / T
gnomAD v2:
2-179466069-C-T
gnomAD v3:
2-178601342-C-T
gnomAD v4:
2-178601342-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601342C>T , CM000664.2:g.178601342C>T | GRCh38 |
| NC_000002.11:g.179466069C>T , CM000664.1:g.179466069C>T | GRCh37 |
| NC_000002.10:g.179174314C>T | NCBI36 |
| NG_011618.3:g.234461G>A , LRG_391:g.234461G>A | |
| NG_051363.1:g.83516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47951G>A (TTN) | ENSP00000343764.6:p.Arg15984His | |
| ENST00000342175.11:c.29036G>A (TTN) | ENSP00000340554.6:p.Arg9679His | |
| ENST00000359218.10:c.28835G>A (TTN) | ENSP00000352154.5:p.Arg9612His | |
| ENST00000342175.10:c.29036G>A (TTN) | ENSP00000340554.6:p.Arg9679His | |
| ENST00000342992.10:c.47951G>A (TTN) | ENSP00000343764.6:p.Arg15984His | |
| ENST00000359218.9:c.28835G>A (TTN) | ENSP00000352154.5:p.Arg9612His | |
| ENST00000460472.6:c.28460G>A (TTN) | ENSP00000434586.1:p.Arg9487His | |
| ENST00000589042.5:c.55655G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg18552His | |
| ENST00000591111.5:c.50732G>A (TTN) | ENSP00000465570.1:p.Arg16911His | |
| ENST00000615779.4:c.50732G>A (TTN) | ENSP00000483597.1:p.Arg16911His | |
| NM_001256850.1:c.50732G>A (TTN) | NP_001243779.1:p.Arg16911His | |
| NM_001267550.2:c.55655G>A (TTN) MANE Select | NP_001254479.2:p.Arg18552His | |
| NM_003319.4:c.28460G>A (TTN) | NP_003310.4:p.Arg9487His | |
| NM_133378.4:c.47951G>A (TTN) | NP_596869.4:p.Arg15984His | |
| NM_133432.3:c.28835G>A (TTN) | NP_597676.3:p.Arg9612His | |
| NM_133437.4:c.29036G>A (TTN) | NP_597681.4:p.Arg9679His | |
| NR_038271.1:n.682+3661C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+675C>T (TTN-AS1) | ||
| XM_011511729.1:c.54752G>A (TTN) | XP_011510031.1:p.Arg18251His | |
| XM_011511730.1:c.28646G>A (TTN) | XP_011510032.1:p.Arg9549His | |
| XM_011511731.1:c.28505G>A (TTN) | XP_011510033.1:p.Arg9502His | |
| XM_017004819.1:c.54548G>A (TTN) | XP_016860308.1:p.Arg18183His | |
| XM_017004820.1:c.49946G>A (TTN) | XP_016860309.1:p.Arg16649His | |
| XM_017004821.1:c.49943G>A (TTN) | XP_016860310.1:p.Arg16648His | |
| XM_017004822.1:c.46985G>A (TTN) | XP_016860311.1:p.Arg15662His | |
| XM_017004823.1:c.28601G>A (TTN) | XP_016860312.1:p.Arg9534His | |
| XM_024453094.1:c.50096G>A (TTN) | XP_024308862.1:p.Arg16699His | |
| XM_024453095.1:c.50093G>A (TTN) | XP_024308863.1:p.Arg16698His | |
| XM_024453096.1:c.49526G>A (TTN) | XP_024308864.1:p.Arg16509His | |
| XM_024453097.1:c.46868G>A (TTN) | XP_024308865.1:p.Arg15623His | |
| XM_024453098.1:c.46787G>A (TTN) | XP_024308866.1:p.Arg15596His | |
| XM_024453099.1:c.28550G>A (TTN) | XP_024308867.1:p.Arg9517His | |
| XM_024453100.1:c.18404G>A (TTN) | XP_024308868.1:p.Arg6135His |