Linked Data
ClinVar Variation Id:
535392
ClinVar RCV Id:
RCV000643347
dbSNP Id:
rs1553692607
gnomAD v4:
2-178609969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609969C>T , CM000664.2:g.178609969C>T | GRCh38 |
| NC_000002.11:g.179474696C>T , CM000664.1:g.179474696C>T | GRCh37 |
| NC_000002.10:g.179182941C>T | NCBI36 |
| NG_011618.3:g.225834G>A , LRG_391:g.225834G>A | |
| NG_051363.1:g.92143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43750G>A (TTN) | ENSP00000343764.6:p.Val14584Ile | |
| ENST00000342175.11:c.24835G>A (TTN) | ENSP00000340554.6:p.Val8279Ile | |
| ENST00000359218.10:c.24634G>A (TTN) | ENSP00000352154.5:p.Val8212Ile | |
| ENST00000342175.10:c.24835G>A (TTN) | ENSP00000340554.6:p.Val8279Ile | |
| ENST00000342992.10:c.43750G>A (TTN) | ENSP00000343764.6:p.Val14584Ile | |
| ENST00000359218.9:c.24634G>A (TTN) | ENSP00000352154.5:p.Val8212Ile | |
| ENST00000460472.6:c.24259G>A (TTN) | ENSP00000434586.1:p.Val8087Ile | |
| ENST00000589042.5:c.51454G>A (TTN) MANE Select | ENSP00000467141.1:p.Val17152Ile | |
| ENST00000591111.5:c.46531G>A (TTN) | ENSP00000465570.1:p.Val15511Ile | |
| ENST00000615779.4:c.46531G>A (TTN) | ENSP00000483597.1:p.Val15511Ile | |
| NM_001256850.1:c.46531G>A (TTN) | NP_001243779.1:p.Val15511Ile | |
| NM_001267550.2:c.51454G>A (TTN) MANE Select | NP_001254479.2:p.Val17152Ile | |
| NM_003319.4:c.24259G>A (TTN) | NP_003310.4:p.Val8087Ile | |
| NM_133378.4:c.43750G>A (TTN) | NP_596869.4:p.Val14584Ile | |
| NM_133432.3:c.24634G>A (TTN) | NP_597676.3:p.Val8212Ile | |
| NM_133437.4:c.24835G>A (TTN) | NP_597681.4:p.Val8279Ile | |
| NR_038271.1:n.782+1703C>T (TTN-AS1) | ||
| XM_011511729.1:c.50551G>A (TTN) | XP_011510031.1:p.Val16851Ile | |
| XM_011511730.1:c.24445G>A (TTN) | XP_011510032.1:p.Val8149Ile | |
| XM_011511731.1:c.24304G>A (TTN) | XP_011510033.1:p.Val8102Ile | |
| XM_017004819.1:c.50347G>A (TTN) | XP_016860308.1:p.Val16783Ile | |
| XM_017004820.1:c.45745G>A (TTN) | XP_016860309.1:p.Val15249Ile | |
| XM_017004821.1:c.45742G>A (TTN) | XP_016860310.1:p.Val15248Ile | |
| XM_017004822.1:c.42784G>A (TTN) | XP_016860311.1:p.Val14262Ile | |
| XM_017004823.1:c.24400G>A (TTN) | XP_016860312.1:p.Val8134Ile | |
| XM_024453094.1:c.45895G>A (TTN) | XP_024308862.1:p.Val15299Ile | |
| XM_024453095.1:c.45892G>A (TTN) | XP_024308863.1:p.Val15298Ile | |
| XM_024453096.1:c.45325G>A (TTN) | XP_024308864.1:p.Val15109Ile | |
| XM_024453097.1:c.42667G>A (TTN) | XP_024308865.1:p.Val14223Ile | |
| XM_024453098.1:c.42586G>A (TTN) | XP_024308866.1:p.Val14196Ile | |
| XM_024453099.1:c.24349G>A (TTN) | XP_024308867.1:p.Val8117Ile | |
| XM_024453100.1:c.14203G>A (TTN) | XP_024308868.1:p.Val4735Ile |