Linked Data
ClinVar Variation Id:
939688
ClinVar RCV Id:
RCV001209123
dbSNP Id:
rs1688665396
gnomAD v4:
2-178530566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530566G>A , CM000664.2:g.178530566G>A | GRCh38 |
| NC_000002.11:g.179395293G>A , CM000664.1:g.179395293G>A | GRCh37 |
| NC_000002.10:g.179103539G>A | NCBI36 |
| NG_011618.3:g.305237C>T , LRG_391:g.305237C>T | |
| NG_051363.1:g.12740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98345C>T (TTN) | ENSP00000343764.6:p.Thr32782Ile | |
| ENST00000342175.11:c.79430C>T (TTN) | ENSP00000340554.6:p.Thr26477Ile | |
| ENST00000359218.10:c.79229C>T (TTN) | ENSP00000352154.5:p.Thr26410Ile | |
| ENST00000342175.10:c.79430C>T (TTN) | ENSP00000340554.6:p.Thr26477Ile | |
| ENST00000342992.10:c.98345C>T (TTN) | ENSP00000343764.6:p.Thr32782Ile | |
| ENST00000359218.9:c.79229C>T (TTN) | ENSP00000352154.5:p.Thr26410Ile | |
| ENST00000460472.6:c.78854C>T (TTN) | ENSP00000434586.1:p.Thr26285Ile | |
| ENST00000589042.5:c.106049C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr35350Ile | |
| ENST00000591111.5:c.101126C>T (TTN) | ENSP00000465570.1:p.Thr33709Ile | |
| ENST00000615779.4:c.101126C>T (TTN) | ENSP00000483597.1:p.Thr33709Ile | |
| NM_001256850.1:c.101126C>T (TTN) | NP_001243779.1:p.Thr33709Ile | |
| NM_001267550.2:c.106049C>T (TTN) MANE Select | NP_001254479.2:p.Thr35350Ile | |
| NM_003319.4:c.78854C>T (TTN) | NP_003310.4:p.Thr26285Ile | |
| NM_133378.4:c.98345C>T (TTN) | NP_596869.4:p.Thr32782Ile | |
| NM_133432.3:c.79229C>T (TTN) | NP_597676.3:p.Thr26410Ile | |
| NM_133437.4:c.79430C>T (TTN) | NP_597681.4:p.Thr26477Ile | |
| NR_038271.1:n.446+6930G>A (TTN-AS1) | ||
| NR_038272.1:n.220-5166G>A (TTN-AS1) | ||
| XM_011511729.1:c.105146C>T (TTN) | XP_011510031.1:p.Thr35049Ile | |
| XM_011511730.1:c.79040C>T (TTN) | XP_011510032.1:p.Thr26347Ile | |
| XM_011511731.1:c.78899C>T (TTN) | XP_011510033.1:p.Thr26300Ile | |
| XM_017004819.1:c.104942C>T (TTN) | XP_016860308.1:p.Thr34981Ile | |
| XM_017004820.1:c.100340C>T (TTN) | XP_016860309.1:p.Thr33447Ile | |
| XM_017004821.1:c.100337C>T (TTN) | XP_016860310.1:p.Thr33446Ile | |
| XM_017004822.1:c.97379C>T (TTN) | XP_016860311.1:p.Thr32460Ile | |
| XM_017004823.1:c.78995C>T (TTN) | XP_016860312.1:p.Thr26332Ile | |
| XM_024453094.1:c.100490C>T (TTN) | XP_024308862.1:p.Thr33497Ile | |
| XM_024453095.1:c.100487C>T (TTN) | XP_024308863.1:p.Thr33496Ile | |
| XM_024453096.1:c.99920C>T (TTN) | XP_024308864.1:p.Thr33307Ile | |
| XM_024453097.1:c.97262C>T (TTN) | XP_024308865.1:p.Thr32421Ile | |
| XM_024453098.1:c.97181C>T (TTN) | XP_024308866.1:p.Thr32394Ile | |
| XM_024453099.1:c.78944C>T (TTN) | XP_024308867.1:p.Thr26315Ile | |
| XM_024453100.1:c.68798C>T (TTN) | XP_024308868.1:p.Thr22933Ile |