Linked Data
ClinVar Variation Id:
47343
ClinVar RCV Id:
RCV000040613
RCV000233046
RCV000289871
RCV000304997
RCV000362069
RCV000390049
RCV000397350
RCV000619539
RCV001082582
RCV000768924
dbSNP Id:
rs140350441
ExAC:
2:179434746 T / C
gnomAD v2:
2-179434746-T-C
gnomAD v3:
2-178570019-T-C
gnomAD v4:
2-178570019-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570019T>C , CM000664.2:g.178570019T>C | GRCh38 |
| NC_000002.11:g.179434746T>C , CM000664.1:g.179434746T>C | GRCh37 |
| NC_000002.10:g.179142992T>C | NCBI36 |
| NG_011618.3:g.265784A>G , LRG_391:g.265784A>G | |
| NG_051363.1:g.52193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68409A>G (TTN) | ENSP00000343764.6:p.Glu22803= | |
| ENST00000342175.11:c.49494A>G (TTN) | ENSP00000340554.6:p.Glu16498= | |
| ENST00000359218.10:c.49293A>G (TTN) | ENSP00000352154.5:p.Glu16431= | |
| ENST00000342175.10:c.49494A>G (TTN) | ENSP00000340554.6:p.Glu16498= | |
| ENST00000342992.10:c.68409A>G (TTN) | ENSP00000343764.6:p.Glu22803= | |
| ENST00000359218.9:c.49293A>G (TTN) | ENSP00000352154.5:p.Glu16431= | |
| ENST00000460472.6:c.48918A>G (TTN) | ENSP00000434586.1:p.Glu16306= | |
| ENST00000589042.5:c.76113A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu25371= | |
| ENST00000591111.5:c.71190A>G (TTN) | ENSP00000465570.1:p.Glu23730= | |
| ENST00000615779.4:c.71190A>G (TTN) | ENSP00000483597.1:p.Glu23730= | |
| NM_001256850.1:c.71190A>G (TTN) | NP_001243779.1:p.Glu23730= | |
| NM_001267550.2:c.76113A>G (TTN) MANE Select | NP_001254479.2:p.Glu25371= | |
| NM_003319.4:c.48918A>G (TTN) | NP_003310.4:p.Glu16306= | |
| NM_133378.4:c.68409A>G (TTN) | NP_596869.4:p.Glu22803= | |
| NM_133432.3:c.49293A>G (TTN) | NP_597676.3:p.Glu16431= | |
| NM_133437.4:c.49494A>G (TTN) | NP_597681.4:p.Glu16498= | |
| NR_038271.1:n.447-1281T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-12553T>C (TTN-AS1) | ||
| XM_011511729.1:c.75210A>G (TTN) | XP_011510031.1:p.Glu25070= | |
| XM_011511730.1:c.49104A>G (TTN) | XP_011510032.1:p.Glu16368= | |
| XM_011511731.1:c.48963A>G (TTN) | XP_011510033.1:p.Glu16321= | |
| XM_017004819.1:c.75006A>G (TTN) | XP_016860308.1:p.Glu25002= | |
| XM_017004820.1:c.70404A>G (TTN) | XP_016860309.1:p.Glu23468= | |
| XM_017004821.1:c.70401A>G (TTN) | XP_016860310.1:p.Glu23467= | |
| XM_017004822.1:c.67443A>G (TTN) | XP_016860311.1:p.Glu22481= | |
| XM_017004823.1:c.49059A>G (TTN) | XP_016860312.1:p.Glu16353= | |
| XM_024453094.1:c.70554A>G (TTN) | XP_024308862.1:p.Glu23518= | |
| XM_024453095.1:c.70551A>G (TTN) | XP_024308863.1:p.Glu23517= | |
| XM_024453096.1:c.69984A>G (TTN) | XP_024308864.1:p.Glu23328= | |
| XM_024453097.1:c.67326A>G (TTN) | XP_024308865.1:p.Glu22442= | |
| XM_024453098.1:c.67245A>G (TTN) | XP_024308866.1:p.Glu22415= | |
| XM_024453099.1:c.49008A>G (TTN) | XP_024308867.1:p.Glu16336= | |
| XM_024453100.1:c.38862A>G (TTN) | XP_024308868.1:p.Glu12954= |