Linked Data
ClinVar Variation Id:
332836
ClinVar RCV Id:
RCV000294104
RCV000328665
RCV000330362
RCV000389516
RCV000383846
RCV000727849
RCV000642881
dbSNP Id:
rs772324772
ExAC:
2:179470444 T / C
gnomAD v2:
2-179470444-T-C
gnomAD v3:
2-178605717-T-C
gnomAD v4:
2-178605717-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605717T>C , CM000664.2:g.178605717T>C | GRCh38 |
| NC_000002.11:g.179470444T>C , CM000664.1:g.179470444T>C | GRCh37 |
| NC_000002.10:g.179178689T>C | NCBI36 |
| NG_011618.3:g.230086A>G , LRG_391:g.230086A>G | |
| NG_051363.1:g.87891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45878-4A>G (TTN) | ENSP00000343764.6:n.45878-4A>G | |
| ENST00000342175.11:c.26963-4A>G (TTN) | ENSP00000340554.6:n.26963-4A>G | |
| ENST00000359218.10:c.26762-4A>G (TTN) | ENSP00000352154.5:n.26762-4A>G | |
| ENST00000342175.10:c.26963-4A>G (TTN) | ENSP00000340554.6:n.26963-4A>G | |
| ENST00000342992.10:c.45878-4A>G (TTN) | ENSP00000343764.6:n.45878-4A>G | |
| ENST00000359218.9:c.26762-4A>G (TTN) | ENSP00000352154.5:n.26762-4A>G | |
| ENST00000460472.6:c.26387-4A>G (TTN) | ENSP00000434586.1:n.26387-4A>G | |
| ENST00000589042.5:c.53582-4A>G (TTN) MANE Select | ENSP00000467141.1:n.53582-4A>G | |
| ENST00000591111.5:c.48659-4A>G (TTN) | ENSP00000465570.1:n.48659-4A>G | |
| ENST00000615779.4:c.48659-4A>G (TTN) | ENSP00000483597.1:n.48659-4A>G | |
| NM_001256850.1:c.48659-4A>G (TTN) | NP_001243779.1:n.48659-4A>G | |
| NM_001267550.2:c.53582-4A>G (TTN) MANE Select | NP_001254479.2:n.53582-4A>G | |
| NM_003319.4:c.26387-4A>G (TTN) | NP_003310.4:n.26387-4A>G | |
| NM_133378.4:c.45878-4A>G (TTN) | NP_596869.4:n.45878-4A>G | |
| NM_133432.3:c.26762-4A>G (TTN) | NP_597676.3:n.26762-4A>G | |
| NM_133437.4:c.26963-4A>G (TTN) | NP_597681.4:n.26963-4A>G | |
| NR_038271.1:n.683-2450T>C (TTN-AS1) | ||
| XM_011511729.1:c.52679-4A>G (TTN) | XP_011510031.1:n.52679-4A>G | |
| XM_011511730.1:c.26573-4A>G (TTN) | XP_011510032.1:n.26573-4A>G | |
| XM_011511731.1:c.26432-4A>G (TTN) | XP_011510033.1:n.26432-4A>G | |
| XM_017004819.1:c.52475-4A>G (TTN) | XP_016860308.1:n.52475-4A>G | |
| XM_017004820.1:c.47873-4A>G (TTN) | XP_016860309.1:n.47873-4A>G | |
| XM_017004821.1:c.47870-4A>G (TTN) | XP_016860310.1:n.47870-4A>G | |
| XM_017004822.1:c.44912-4A>G (TTN) | XP_016860311.1:n.44912-4A>G | |
| XM_017004823.1:c.26528-4A>G (TTN) | XP_016860312.1:n.26528-4A>G | |
| XM_024453094.1:c.48023-4A>G (TTN) | XP_024308862.1:n.48023-4A>G | |
| XM_024453095.1:c.48020-4A>G (TTN) | XP_024308863.1:n.48020-4A>G | |
| XM_024453096.1:c.47453-4A>G (TTN) | XP_024308864.1:n.47453-4A>G | |
| XM_024453097.1:c.44795-4A>G (TTN) | XP_024308865.1:n.44795-4A>G | |
| XM_024453098.1:c.44714-4A>G (TTN) | XP_024308866.1:n.44714-4A>G | |
| XM_024453099.1:c.26477-4A>G (TTN) | XP_024308867.1:n.26477-4A>G | |
| XM_024453100.1:c.16331-4A>G (TTN) | XP_024308868.1:n.16331-4A>G |