Linked Data
ClinVar Variation Id:
467601
dbSNP Id:
rs369690199
ExAC:
2:179421567 A / G
gnomAD v2:
2-179421567-A-G
gnomAD v3:
2-178556840-A-G
gnomAD v4:
2-178556840-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178556840A>G , CM000664.2:g.178556840A>G | GRCh38 |
| NC_000002.11:g.179421567A>G , CM000664.1:g.179421567A>G | GRCh37 |
| NC_000002.10:g.179129813A>G | NCBI36 |
| NG_011618.3:g.278963T>C , LRG_391:g.278963T>C | |
| NG_051363.1:g.39014A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80602+8T>C (TTN) | ENSP00000343764.6:n.80602+8T>C | |
| ENST00000342175.11:c.61687+8T>C (TTN) | ENSP00000340554.6:n.61687+8T>C | |
| ENST00000359218.10:c.61486+8T>C (TTN) | ENSP00000352154.5:n.61486+8T>C | |
| ENST00000342175.10:c.61687+8T>C (TTN) | ENSP00000340554.6:n.61687+8T>C | |
| ENST00000342992.10:c.80602+8T>C (TTN) | ENSP00000343764.6:n.80602+8T>C | |
| ENST00000359218.9:c.61486+8T>C (TTN) | ENSP00000352154.5:n.61486+8T>C | |
| ENST00000460472.6:c.61111+8T>C (TTN) | ENSP00000434586.1:n.61111+8T>C | |
| ENST00000589042.5:c.88306+8T>C (TTN) MANE Select | ENSP00000467141.1:n.88306+8T>C | |
| ENST00000591111.5:c.83383+8T>C (TTN) | ENSP00000465570.1:n.83383+8T>C | |
| ENST00000615779.4:c.83383+8T>C (TTN) | ENSP00000483597.1:n.83383+8T>C | |
| NM_001256850.1:c.83383+8T>C (TTN) | NP_001243779.1:n.83383+8T>C | |
| NM_001267550.2:c.88306+8T>C (TTN) MANE Select | NP_001254479.2:n.88306+8T>C | |
| NM_003319.4:c.61111+8T>C (TTN) | NP_003310.4:n.61111+8T>C | |
| NM_133378.4:c.80602+8T>C (TTN) | NP_596869.4:n.80602+8T>C | |
| NM_133432.3:c.61486+8T>C (TTN) | NP_597676.3:n.61486+8T>C | |
| NM_133437.4:c.61687+8T>C (TTN) | NP_597681.4:n.61687+8T>C | |
| NR_038271.1:n.447-14460A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+14479A>G (TTN-AS1) | ||
| XM_011511729.1:c.87403+8T>C (TTN) | XP_011510031.1:n.87403+8T>C | |
| XM_011511730.1:c.61297+8T>C (TTN) | XP_011510032.1:n.61297+8T>C | |
| XM_011511731.1:c.61156+8T>C (TTN) | XP_011510033.1:n.61156+8T>C | |
| XM_017004819.1:c.87199+8T>C (TTN) | XP_016860308.1:n.87199+8T>C | |
| XM_017004820.1:c.82597+8T>C (TTN) | XP_016860309.1:n.82597+8T>C | |
| XM_017004821.1:c.82594+8T>C (TTN) | XP_016860310.1:n.82594+8T>C | |
| XM_017004822.1:c.79636+8T>C (TTN) | XP_016860311.1:n.79636+8T>C | |
| XM_017004823.1:c.61252+8T>C (TTN) | XP_016860312.1:n.61252+8T>C | |
| XM_024453094.1:c.82747+8T>C (TTN) | XP_024308862.1:n.82747+8T>C | |
| XM_024453095.1:c.82744+8T>C (TTN) | XP_024308863.1:n.82744+8T>C | |
| XM_024453096.1:c.82177+8T>C (TTN) | XP_024308864.1:n.82177+8T>C | |
| XM_024453097.1:c.79519+8T>C (TTN) | XP_024308865.1:n.79519+8T>C | |
| XM_024453098.1:c.79438+8T>C (TTN) | XP_024308866.1:n.79438+8T>C | |
| XM_024453099.1:c.61201+8T>C (TTN) | XP_024308867.1:n.61201+8T>C | |
| XM_024453100.1:c.51055+8T>C (TTN) | XP_024308868.1:n.51055+8T>C |