Linked Data
ClinVar Variation Id:
203100
ClinVar RCV Id:
RCV000185126
RCV000274755
RCV000271197
RCV000331942
RCV000363562
RCV000328540
RCV000728009
dbSNP Id:
rs368151146
ExAC:
2:179395587 C / T
gnomAD v2:
2-179395587-C-T
gnomAD v3:
2-178530860-C-T
gnomAD v4:
2-178530860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530860C>T , CM000664.2:g.178530860C>T | GRCh38 |
| NC_000002.11:g.179395587C>T , CM000664.1:g.179395587C>T | GRCh37 |
| NC_000002.10:g.179103833C>T | NCBI36 |
| NG_011618.3:g.304943G>A , LRG_391:g.304943G>A | |
| NG_051363.1:g.13034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98051G>A (TTN) | ENSP00000343764.6:p.Arg32684Gln | |
| ENST00000342175.11:c.79136G>A (TTN) | ENSP00000340554.6:p.Arg26379Gln | |
| ENST00000359218.10:c.78935G>A (TTN) | ENSP00000352154.5:p.Arg26312Gln | |
| ENST00000342175.10:c.79136G>A (TTN) | ENSP00000340554.6:p.Arg26379Gln | |
| ENST00000342992.10:c.98051G>A (TTN) | ENSP00000343764.6:p.Arg32684Gln | |
| ENST00000359218.9:c.78935G>A (TTN) | ENSP00000352154.5:p.Arg26312Gln | |
| ENST00000460472.6:c.78560G>A (TTN) | ENSP00000434586.1:p.Arg26187Gln | |
| ENST00000589042.5:c.105755G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg35252Gln | |
| ENST00000591111.5:c.100832G>A (TTN) | ENSP00000465570.1:p.Arg33611Gln | |
| ENST00000615779.4:c.100832G>A (TTN) | ENSP00000483597.1:p.Arg33611Gln | |
| NM_001256850.1:c.100832G>A (TTN) | NP_001243779.1:p.Arg33611Gln | |
| NM_001267550.2:c.105755G>A (TTN) MANE Select | NP_001254479.2:p.Arg35252Gln | |
| NM_003319.4:c.78560G>A (TTN) | NP_003310.4:p.Arg26187Gln | |
| NM_133378.4:c.98051G>A (TTN) | NP_596869.4:p.Arg32684Gln | |
| NM_133432.3:c.78935G>A (TTN) | NP_597676.3:p.Arg26312Gln | |
| NM_133437.4:c.79136G>A (TTN) | NP_597681.4:p.Arg26379Gln | |
| NR_038271.1:n.446+7224C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4872C>T (TTN-AS1) | ||
| XM_011511729.1:c.104852G>A (TTN) | XP_011510031.1:p.Arg34951Gln | |
| XM_011511730.1:c.78746G>A (TTN) | XP_011510032.1:p.Arg26249Gln | |
| XM_011511731.1:c.78605G>A (TTN) | XP_011510033.1:p.Arg26202Gln | |
| XM_017004819.1:c.104648G>A (TTN) | XP_016860308.1:p.Arg34883Gln | |
| XM_017004820.1:c.100046G>A (TTN) | XP_016860309.1:p.Arg33349Gln | |
| XM_017004821.1:c.100043G>A (TTN) | XP_016860310.1:p.Arg33348Gln | |
| XM_017004822.1:c.97085G>A (TTN) | XP_016860311.1:p.Arg32362Gln | |
| XM_017004823.1:c.78701G>A (TTN) | XP_016860312.1:p.Arg26234Gln | |
| XM_024453094.1:c.100196G>A (TTN) | XP_024308862.1:p.Arg33399Gln | |
| XM_024453095.1:c.100193G>A (TTN) | XP_024308863.1:p.Arg33398Gln | |
| XM_024453096.1:c.99626G>A (TTN) | XP_024308864.1:p.Arg33209Gln | |
| XM_024453097.1:c.96968G>A (TTN) | XP_024308865.1:p.Arg32323Gln | |
| XM_024453098.1:c.96887G>A (TTN) | XP_024308866.1:p.Arg32296Gln | |
| XM_024453099.1:c.78650G>A (TTN) | XP_024308867.1:p.Arg26217Gln | |
| XM_024453100.1:c.68504G>A (TTN) | XP_024308868.1:p.Arg22835Gln |