Linked Data
ClinVar Variation Id:
518646
ClinVar RCV Id:
RCV000619118
dbSNP Id:
rs1553622498
gnomAD v4:
2-178579735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579735C>T , CM000664.2:g.178579735C>T | GRCh38 |
| NC_000002.11:g.179444462C>T , CM000664.1:g.179444462C>T | GRCh37 |
| NC_000002.10:g.179152708C>T | NCBI36 |
| NG_011618.3:g.256068G>A , LRG_391:g.256068G>A | |
| NG_051363.1:g.61909C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59758G>A (TTN) | ENSP00000343764.6:p.Val19920Ile | |
| ENST00000342175.11:c.40843G>A (TTN) | ENSP00000340554.6:p.Val13615Ile | |
| ENST00000359218.10:c.40642G>A (TTN) | ENSP00000352154.5:p.Val13548Ile | |
| ENST00000342175.10:c.40843G>A (TTN) | ENSP00000340554.6:p.Val13615Ile | |
| ENST00000342992.10:c.59758G>A (TTN) | ENSP00000343764.6:p.Val19920Ile | |
| ENST00000359218.9:c.40642G>A (TTN) | ENSP00000352154.5:p.Val13548Ile | |
| ENST00000460472.6:c.40267G>A (TTN) | ENSP00000434586.1:p.Val13423Ile | |
| ENST00000589042.5:c.67462G>A (TTN) MANE Select | ENSP00000467141.1:p.Val22488Ile | |
| ENST00000591111.5:c.62539G>A (TTN) | ENSP00000465570.1:p.Val20847Ile | |
| ENST00000615779.4:c.62539G>A (TTN) | ENSP00000483597.1:p.Val20847Ile | |
| NM_001256850.1:c.62539G>A (TTN) | NP_001243779.1:p.Val20847Ile | |
| NM_001267550.2:c.67462G>A (TTN) MANE Select | NP_001254479.2:p.Val22488Ile | |
| NM_003319.4:c.40267G>A (TTN) | NP_003310.4:p.Val13423Ile | |
| NM_133378.4:c.59758G>A (TTN) | NP_596869.4:p.Val19920Ile | |
| NM_133432.3:c.40642G>A (TTN) | NP_597676.3:p.Val13548Ile | |
| NM_133437.4:c.40843G>A (TTN) | NP_597681.4:p.Val13615Ile | |
| NR_038271.1:n.596+8286C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-2837C>T (TTN-AS1) | ||
| XM_011511729.1:c.66559G>A (TTN) | XP_011510031.1:p.Val22187Ile | |
| XM_011511730.1:c.40453G>A (TTN) | XP_011510032.1:p.Val13485Ile | |
| XM_011511731.1:c.40312G>A (TTN) | XP_011510033.1:p.Val13438Ile | |
| XM_017004819.1:c.66355G>A (TTN) | XP_016860308.1:p.Val22119Ile | |
| XM_017004820.1:c.61753G>A (TTN) | XP_016860309.1:p.Val20585Ile | |
| XM_017004821.1:c.61750G>A (TTN) | XP_016860310.1:p.Val20584Ile | |
| XM_017004822.1:c.58792G>A (TTN) | XP_016860311.1:p.Val19598Ile | |
| XM_017004823.1:c.40408G>A (TTN) | XP_016860312.1:p.Val13470Ile | |
| XM_024453094.1:c.61903G>A (TTN) | XP_024308862.1:p.Val20635Ile | |
| XM_024453095.1:c.61900G>A (TTN) | XP_024308863.1:p.Val20634Ile | |
| XM_024453096.1:c.61333G>A (TTN) | XP_024308864.1:p.Val20445Ile | |
| XM_024453097.1:c.58675G>A (TTN) | XP_024308865.1:p.Val19559Ile | |
| XM_024453098.1:c.58594G>A (TTN) | XP_024308866.1:p.Val19532Ile | |
| XM_024453099.1:c.40357G>A (TTN) | XP_024308867.1:p.Val13453Ile | |
| XM_024453100.1:c.30211G>A (TTN) | XP_024308868.1:p.Val10071Ile |