Linked Data
ClinVar Variation Id:
195709
dbSNP Id:
rs370390570
ExAC:
2:179474015 C / T
gnomAD v2:
2-179474015-C-T
gnomAD v3:
2-178609288-C-T
gnomAD v4:
2-178609288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609288C>T , CM000664.2:g.178609288C>T | GRCh38 |
| NC_000002.11:g.179474015C>T , CM000664.1:g.179474015C>T | GRCh37 |
| NC_000002.10:g.179182260C>T | NCBI36 |
| NG_011618.3:g.226515G>A , LRG_391:g.226515G>A | |
| NG_051363.1:g.91462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44318G>A (TTN) | ENSP00000343764.6:p.Arg14773Gln | |
| ENST00000342175.11:c.25403G>A (TTN) | ENSP00000340554.6:p.Arg8468Gln | |
| ENST00000359218.10:c.25202G>A (TTN) | ENSP00000352154.5:p.Arg8401Gln | |
| ENST00000342175.10:c.25403G>A (TTN) | ENSP00000340554.6:p.Arg8468Gln | |
| ENST00000342992.10:c.44318G>A (TTN) | ENSP00000343764.6:p.Arg14773Gln | |
| ENST00000359218.9:c.25202G>A (TTN) | ENSP00000352154.5:p.Arg8401Gln | |
| ENST00000460472.6:c.24827G>A (TTN) | ENSP00000434586.1:p.Arg8276Gln | |
| ENST00000589042.5:c.52022G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17341Gln | |
| ENST00000591111.5:c.47099G>A (TTN) | ENSP00000465570.1:p.Arg15700Gln | |
| ENST00000615779.4:c.47099G>A (TTN) | ENSP00000483597.1:p.Arg15700Gln | |
| NM_001256850.1:c.47099G>A (TTN) | NP_001243779.1:p.Arg15700Gln | |
| NM_001267550.2:c.52022G>A (TTN) MANE Select | NP_001254479.2:p.Arg17341Gln | |
| NM_003319.4:c.24827G>A (TTN) | NP_003310.4:p.Arg8276Gln | |
| NM_133378.4:c.44318G>A (TTN) | NP_596869.4:p.Arg14773Gln | |
| NM_133432.3:c.25202G>A (TTN) | NP_597676.3:p.Arg8401Gln | |
| NM_133437.4:c.25403G>A (TTN) | NP_597681.4:p.Arg8468Gln | |
| NR_038271.1:n.782+1022C>T (TTN-AS1) | ||
| XM_011511729.1:c.51119G>A (TTN) | XP_011510031.1:p.Arg17040Gln | |
| XM_011511730.1:c.25013G>A (TTN) | XP_011510032.1:p.Arg8338Gln | |
| XM_011511731.1:c.24872G>A (TTN) | XP_011510033.1:p.Arg8291Gln | |
| XM_017004819.1:c.50915G>A (TTN) | XP_016860308.1:p.Arg16972Gln | |
| XM_017004820.1:c.46313G>A (TTN) | XP_016860309.1:p.Arg15438Gln | |
| XM_017004821.1:c.46310G>A (TTN) | XP_016860310.1:p.Arg15437Gln | |
| XM_017004822.1:c.43352G>A (TTN) | XP_016860311.1:p.Arg14451Gln | |
| XM_017004823.1:c.24968G>A (TTN) | XP_016860312.1:p.Arg8323Gln | |
| XM_024453094.1:c.46463G>A (TTN) | XP_024308862.1:p.Arg15488Gln | |
| XM_024453095.1:c.46460G>A (TTN) | XP_024308863.1:p.Arg15487Gln | |
| XM_024453096.1:c.45893G>A (TTN) | XP_024308864.1:p.Arg15298Gln | |
| XM_024453097.1:c.43235G>A (TTN) | XP_024308865.1:p.Arg14412Gln | |
| XM_024453098.1:c.43154G>A (TTN) | XP_024308866.1:p.Arg14385Gln | |
| XM_024453099.1:c.24917G>A (TTN) | XP_024308867.1:p.Arg8306Gln | |
| XM_024453100.1:c.14771G>A (TTN) | XP_024308868.1:p.Arg4924Gln |