Linked Data
ClinVar Variation Id:
47221
dbSNP Id:
rs377484398
ExAC:
2:179448641 A / G
gnomAD v2:
2-179448641-A-G
gnomAD v3:
2-178583914-A-G
gnomAD v4:
2-178583914-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583914A>G , CM000664.2:g.178583914A>G | GRCh38 |
| NC_000002.11:g.179448641A>G , CM000664.1:g.179448641A>G | GRCh37 |
| NC_000002.10:g.179156887A>G | NCBI36 |
| NG_011618.3:g.251889T>C , LRG_391:g.251889T>C | |
| NG_051363.1:g.66088A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.57572-8T>C (TTN) | ENSP00000343764.6:n.57572-8T>C | |
| ENST00000342175.11:c.38657-8T>C (TTN) | ENSP00000340554.6:n.38657-8T>C | |
| ENST00000359218.10:c.38456-8T>C (TTN) | ENSP00000352154.5:n.38456-8T>C | |
| ENST00000342175.10:c.38657-8T>C (TTN) | ENSP00000340554.6:n.38657-8T>C | |
| ENST00000342992.10:c.57572-8T>C (TTN) | ENSP00000343764.6:n.57572-8T>C | |
| ENST00000359218.9:c.38456-8T>C (TTN) | ENSP00000352154.5:n.38456-8T>C | |
| ENST00000460472.6:c.38081-8T>C (TTN) | ENSP00000434586.1:n.38081-8T>C | |
| ENST00000589042.5:c.65276-8T>C (TTN) MANE Select | ENSP00000467141.1:n.65276-8T>C | |
| ENST00000591111.5:c.60353-8T>C (TTN) | ENSP00000465570.1:n.60353-8T>C | |
| ENST00000615779.4:c.60353-8T>C (TTN) | ENSP00000483597.1:n.60353-8T>C | |
| NM_001256850.1:c.60353-8T>C (TTN) | NP_001243779.1:n.60353-8T>C | |
| NM_001267550.2:c.65276-8T>C (TTN) MANE Select | NP_001254479.2:n.65276-8T>C | |
| NM_003319.4:c.38081-8T>C (TTN) | NP_003310.4:n.38081-8T>C | |
| NM_133378.4:c.57572-8T>C (TTN) | NP_596869.4:n.57572-8T>C | |
| NM_133432.3:c.38456-8T>C (TTN) | NP_597676.3:n.38456-8T>C | |
| NM_133437.4:c.38657-8T>C (TTN) | NP_597681.4:n.38657-8T>C | |
| NR_038271.1:n.596+12465A>G (TTN-AS1) | ||
| NR_038272.1:n.2760A>G (TTN-AS1) | ||
| XM_011511729.1:c.64373-8T>C (TTN) | XP_011510031.1:n.64373-8T>C | |
| XM_011511730.1:c.38267-8T>C (TTN) | XP_011510032.1:n.38267-8T>C | |
| XM_011511731.1:c.38126-8T>C (TTN) | XP_011510033.1:n.38126-8T>C | |
| XM_017004819.1:c.64169-8T>C (TTN) | XP_016860308.1:n.64169-8T>C | |
| XM_017004820.1:c.59567-8T>C (TTN) | XP_016860309.1:n.59567-8T>C | |
| XM_017004821.1:c.59564-8T>C (TTN) | XP_016860310.1:n.59564-8T>C | |
| XM_017004822.1:c.56606-8T>C (TTN) | XP_016860311.1:n.56606-8T>C | |
| XM_017004823.1:c.38222-8T>C (TTN) | XP_016860312.1:n.38222-8T>C | |
| XM_024453094.1:c.59717-8T>C (TTN) | XP_024308862.1:n.59717-8T>C | |
| XM_024453095.1:c.59714-8T>C (TTN) | XP_024308863.1:n.59714-8T>C | |
| XM_024453096.1:c.59147-8T>C (TTN) | XP_024308864.1:n.59147-8T>C | |
| XM_024453097.1:c.56489-8T>C (TTN) | XP_024308865.1:n.56489-8T>C | |
| XM_024453098.1:c.56408-8T>C (TTN) | XP_024308866.1:n.56408-8T>C | |
| XM_024453099.1:c.38171-8T>C (TTN) | XP_024308867.1:n.38171-8T>C | |
| XM_024453100.1:c.28025-8T>C (TTN) | XP_024308868.1:n.28025-8T>C |