Linked Data
ClinVar Variation Id:
191127
dbSNP Id:
rs760107623
ExAC:
2:179393123 C / T
gnomAD v2:
2-179393123-C-T
gnomAD v3:
2-178528396-C-T
gnomAD v4:
2-178528396-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528396C>T , CM000664.2:g.178528396C>T | GRCh38 |
| NC_000002.11:g.179393123C>T , CM000664.1:g.179393123C>T | GRCh37 |
| NC_000002.10:g.179101369C>T | NCBI36 |
| NG_011618.3:g.307407G>A , LRG_391:g.307407G>A | |
| NG_051363.1:g.10570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99551G>A (TTN) | ENSP00000343764.6:p.Arg33184His | |
| ENST00000342175.11:c.80636G>A (TTN) | ENSP00000340554.6:p.Arg26879His | |
| ENST00000359218.10:c.80435G>A (TTN) | ENSP00000352154.5:p.Arg26812His | |
| ENST00000342175.10:c.80636G>A (TTN) | ENSP00000340554.6:p.Arg26879His | |
| ENST00000342992.10:c.99551G>A (TTN) | ENSP00000343764.6:p.Arg33184His | |
| ENST00000359218.9:c.80435G>A (TTN) | ENSP00000352154.5:p.Arg26812His | |
| ENST00000460472.6:c.80060G>A (TTN) | ENSP00000434586.1:p.Arg26687His | |
| ENST00000589042.5:c.107255G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg35752His | |
| ENST00000591111.5:c.102332G>A (TTN) | ENSP00000465570.1:p.Arg34111His | |
| ENST00000615779.4:c.102332G>A (TTN) | ENSP00000483597.1:p.Arg34111His | |
| NM_001256850.1:c.102332G>A (TTN) | NP_001243779.1:p.Arg34111His | |
| NM_001267550.2:c.107255G>A (TTN) MANE Select | NP_001254479.2:p.Arg35752His | |
| NM_003319.4:c.80060G>A (TTN) | NP_003310.4:p.Arg26687His | |
| NM_133378.4:c.99551G>A (TTN) | NP_596869.4:p.Arg33184His | |
| NM_133432.3:c.80435G>A (TTN) | NP_597676.3:p.Arg26812His | |
| NM_133437.4:c.80636G>A (TTN) | NP_597681.4:p.Arg26879His | |
| NR_038271.1:n.446+4760C>T (TTN-AS1) | ||
| NR_038272.1:n.219+4760C>T (TTN-AS1) | ||
| XM_011511729.1:c.106352G>A (TTN) | XP_011510031.1:p.Arg35451His | |
| XM_011511730.1:c.80246G>A (TTN) | XP_011510032.1:p.Arg26749His | |
| XM_011511731.1:c.80105G>A (TTN) | XP_011510033.1:p.Arg26702His | |
| XM_017004819.1:c.106148G>A (TTN) | XP_016860308.1:p.Arg35383His | |
| XM_017004820.1:c.101546G>A (TTN) | XP_016860309.1:p.Arg33849His | |
| XM_017004821.1:c.101543G>A (TTN) | XP_016860310.1:p.Arg33848His | |
| XM_017004822.1:c.98585G>A (TTN) | XP_016860311.1:p.Arg32862His | |
| XM_017004823.1:c.80201G>A (TTN) | XP_016860312.1:p.Arg26734His | |
| XM_024453094.1:c.101696G>A (TTN) | XP_024308862.1:p.Arg33899His | |
| XM_024453095.1:c.101693G>A (TTN) | XP_024308863.1:p.Arg33898His | |
| XM_024453096.1:c.101126G>A (TTN) | XP_024308864.1:p.Arg33709His | |
| XM_024453097.1:c.98468G>A (TTN) | XP_024308865.1:p.Arg32823His | |
| XM_024453098.1:c.98387G>A (TTN) | XP_024308866.1:p.Arg32796His | |
| XM_024453099.1:c.80150G>A (TTN) | XP_024308867.1:p.Arg26717His | |
| XM_024453100.1:c.70004G>A (TTN) | XP_024308868.1:p.Arg23335His |