Linked Data
ClinVar Variation Id:
467289
dbSNP Id:
rs771284532
ExAC:
2:179464169 C / T
gnomAD v2:
2-179464169-C-T
gnomAD v3:
2-178599442-C-T
gnomAD v4:
2-178599442-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599442C>T , CM000664.2:g.178599442C>T | GRCh38 |
| NC_000002.11:g.179464169C>T , CM000664.1:g.179464169C>T | GRCh37 |
| NC_000002.10:g.179172414C>T | NCBI36 |
| NG_011618.3:g.236361G>A , LRG_391:g.236361G>A | |
| NG_051363.1:g.81616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48647G>A (TTN) | ENSP00000343764.6:p.Arg16216His | |
| ENST00000342175.11:c.29732G>A (TTN) | ENSP00000340554.6:p.Arg9911His | |
| ENST00000359218.10:c.29531G>A (TTN) | ENSP00000352154.5:p.Arg9844His | |
| ENST00000342175.10:c.29732G>A (TTN) | ENSP00000340554.6:p.Arg9911His | |
| ENST00000342992.10:c.48647G>A (TTN) | ENSP00000343764.6:p.Arg16216His | |
| ENST00000359218.9:c.29531G>A (TTN) | ENSP00000352154.5:p.Arg9844His | |
| ENST00000460472.6:c.29156G>A (TTN) | ENSP00000434586.1:p.Arg9719His | |
| ENST00000589042.5:c.56351G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg18784His | |
| ENST00000591111.5:c.51428G>A (TTN) | ENSP00000465570.1:p.Arg17143His | |
| ENST00000615779.4:c.51428G>A (TTN) | ENSP00000483597.1:p.Arg17143His | |
| NM_001256850.1:c.51428G>A (TTN) | NP_001243779.1:p.Arg17143His | |
| NM_001267550.2:c.56351G>A (TTN) MANE Select | NP_001254479.2:p.Arg18784His | |
| NM_003319.4:c.29156G>A (TTN) | NP_003310.4:p.Arg9719His | |
| NM_133378.4:c.48647G>A (TTN) | NP_596869.4:p.Arg16216His | |
| NM_133432.3:c.29531G>A (TTN) | NP_597676.3:p.Arg9844His | |
| NM_133437.4:c.29732G>A (TTN) | NP_597681.4:p.Arg9911His | |
| NR_038271.1:n.682+1761C>T (TTN-AS1) | ||
| NR_038272.1:n.3569-152C>T (TTN-AS1) | ||
| XM_011511729.1:c.55448G>A (TTN) | XP_011510031.1:p.Arg18483His | |
| XM_011511730.1:c.29342G>A (TTN) | XP_011510032.1:p.Arg9781His | |
| XM_011511731.1:c.29201G>A (TTN) | XP_011510033.1:p.Arg9734His | |
| XM_017004819.1:c.55244G>A (TTN) | XP_016860308.1:p.Arg18415His | |
| XM_017004820.1:c.50642G>A (TTN) | XP_016860309.1:p.Arg16881His | |
| XM_017004821.1:c.50639G>A (TTN) | XP_016860310.1:p.Arg16880His | |
| XM_017004822.1:c.47681G>A (TTN) | XP_016860311.1:p.Arg15894His | |
| XM_017004823.1:c.29297G>A (TTN) | XP_016860312.1:p.Arg9766His | |
| XM_024453094.1:c.50792G>A (TTN) | XP_024308862.1:p.Arg16931His | |
| XM_024453095.1:c.50789G>A (TTN) | XP_024308863.1:p.Arg16930His | |
| XM_024453096.1:c.50222G>A (TTN) | XP_024308864.1:p.Arg16741His | |
| XM_024453097.1:c.47564G>A (TTN) | XP_024308865.1:p.Arg15855His | |
| XM_024453098.1:c.47483G>A (TTN) | XP_024308866.1:p.Arg15828His | |
| XM_024453099.1:c.29246G>A (TTN) | XP_024308867.1:p.Arg9749His | |
| XM_024453100.1:c.19100G>A (TTN) | XP_024308868.1:p.Arg6367His |