Linked Data
ClinVar Variation Id:
223284
dbSNP Id:
rs748369265
ExAC:
2:179466515 C / T
gnomAD v2:
2-179466515-C-T
gnomAD v3:
2-178601788-C-T
gnomAD v4:
2-178601788-C-T
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601788C>T , CM000664.2:g.178601788C>T | GRCh38 |
| NC_000002.11:g.179466515C>T , CM000664.1:g.179466515C>T | GRCh37 |
| NC_000002.10:g.179174760C>T | NCBI36 |
| NG_011618.3:g.234015G>A , LRG_391:g.234015G>A | |
| NG_051363.1:g.83962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47599-1G>A (TTN) | ENSP00000343764.6:n.47599-1G>A | |
| ENST00000342175.11:c.28684-1G>A (TTN) | ENSP00000340554.6:n.28684-1G>A | |
| ENST00000359218.10:c.28483-1G>A (TTN) | ENSP00000352154.5:n.28483-1G>A | |
| ENST00000342175.10:c.28684-1G>A (TTN) | ENSP00000340554.6:n.28684-1G>A | |
| ENST00000342992.10:c.47599-1G>A (TTN) | ENSP00000343764.6:n.47599-1G>A | |
| ENST00000359218.9:c.28483-1G>A (TTN) | ENSP00000352154.5:n.28483-1G>A | |
| ENST00000460472.6:c.28108-1G>A (TTN) | ENSP00000434586.1:n.28108-1G>A | |
| ENST00000589042.5:c.55303-1G>A (TTN) MANE Select | ENSP00000467141.1:n.55303-1G>A | |
| ENST00000591111.5:c.50380-1G>A (TTN) | ENSP00000465570.1:n.50380-1G>A | |
| ENST00000615779.4:c.50380-1G>A (TTN) | ENSP00000483597.1:n.50380-1G>A | |
| NM_001256850.1:c.50380-1G>A (TTN) | NP_001243779.1:n.50380-1G>A | |
| NM_001267550.2:c.55303-1G>A (TTN) MANE Select | NP_001254479.2:n.55303-1G>A | |
| NM_003319.4:c.28108-1G>A (TTN) | NP_003310.4:n.28108-1G>A | |
| NM_133378.4:c.47599-1G>A (TTN) | NP_596869.4:n.47599-1G>A | |
| NM_133432.3:c.28483-1G>A (TTN) | NP_597676.3:n.28483-1G>A | |
| NM_133437.4:c.28684-1G>A (TTN) | NP_597681.4:n.28684-1G>A | |
| NR_038271.1:n.682+4107C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+1121C>T (TTN-AS1) | ||
| XM_011511729.1:c.54400-1G>A (TTN) | XP_011510031.1:n.54400-1G>A | |
| XM_011511730.1:c.28294-1G>A (TTN) | XP_011510032.1:n.28294-1G>A | |
| XM_011511731.1:c.28153-1G>A (TTN) | XP_011510033.1:n.28153-1G>A | |
| XM_017004819.1:c.54196-1G>A (TTN) | XP_016860308.1:n.54196-1G>A | |
| XM_017004820.1:c.49594-1G>A (TTN) | XP_016860309.1:n.49594-1G>A | |
| XM_017004821.1:c.49591-1G>A (TTN) | XP_016860310.1:n.49591-1G>A | |
| XM_017004822.1:c.46633-1G>A (TTN) | XP_016860311.1:n.46633-1G>A | |
| XM_017004823.1:c.28249-1G>A (TTN) | XP_016860312.1:n.28249-1G>A | |
| XM_024453094.1:c.49744-1G>A (TTN) | XP_024308862.1:n.49744-1G>A | |
| XM_024453095.1:c.49741-1G>A (TTN) | XP_024308863.1:n.49741-1G>A | |
| XM_024453096.1:c.49174-1G>A (TTN) | XP_024308864.1:n.49174-1G>A | |
| XM_024453097.1:c.46516-1G>A (TTN) | XP_024308865.1:n.46516-1G>A | |
| XM_024453098.1:c.46435-1G>A (TTN) | XP_024308866.1:n.46435-1G>A | |
| XM_024453099.1:c.28198-1G>A (TTN) | XP_024308867.1:n.28198-1G>A | |
| XM_024453100.1:c.18052-1G>A (TTN) | XP_024308868.1:n.18052-1G>A |