Linked Data
ClinVar Variation Id:
165715
ClinVar RCV Id:
RCV000152180
RCV000330140
RCV000246063
RCV000415743
RCV000259872
RCV000333738
RCV000384593
RCV000388220
RCV001171237
RCV001084133
RCV004532689
dbSNP Id:
rs373871146
ExAC:
2:179411195 G / A
gnomAD v2:
2-179411195-G-A
gnomAD v3:
2-178546468-G-A
gnomAD v4:
2-178546468-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546468G>A , CM000664.2:g.178546468G>A | GRCh38 |
| NC_000002.11:g.179411195G>A , CM000664.1:g.179411195G>A | GRCh37 |
| NC_000002.10:g.179119441G>A | NCBI36 |
| NG_011618.3:g.289335C>T , LRG_391:g.289335C>T | |
| NG_051363.1:g.28642G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87159C>T (TTN) | ENSP00000343764.6:p.His29053= | |
| ENST00000342175.11:c.68244C>T (TTN) | ENSP00000340554.6:p.His22748= | |
| ENST00000359218.10:c.68043C>T (TTN) | ENSP00000352154.5:p.His22681= | |
| ENST00000342175.10:c.68244C>T (TTN) | ENSP00000340554.6:p.His22748= | |
| ENST00000342992.10:c.87159C>T (TTN) | ENSP00000343764.6:p.His29053= | |
| ENST00000359218.9:c.68043C>T (TTN) | ENSP00000352154.5:p.His22681= | |
| ENST00000460472.6:c.67668C>T (TTN) | ENSP00000434586.1:p.His22556= | |
| ENST00000589042.5:c.94863C>T (TTN) MANE Select | ENSP00000467141.1:p.His31621= | |
| ENST00000591111.5:c.89940C>T (TTN) | ENSP00000465570.1:p.His29980= | |
| ENST00000615779.4:c.89940C>T (TTN) | ENSP00000483597.1:p.His29980= | |
| NM_001256850.1:c.89940C>T (TTN) | NP_001243779.1:p.His29980= | |
| NM_001267550.2:c.94863C>T (TTN) MANE Select | NP_001254479.2:p.His31621= | |
| NM_003319.4:c.67668C>T (TTN) | NP_003310.4:p.His22556= | |
| NM_133378.4:c.87159C>T (TTN) | NP_596869.4:p.His29053= | |
| NM_133432.3:c.68043C>T (TTN) | NP_597676.3:p.His22681= | |
| NM_133437.4:c.68244C>T (TTN) | NP_597681.4:p.His22748= | |
| NR_038271.1:n.446+22832G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+4107G>A (TTN-AS1) | ||
| XM_011511729.1:c.93960C>T (TTN) | XP_011510031.1:p.His31320= | |
| XM_011511730.1:c.67854C>T (TTN) | XP_011510032.1:p.His22618= | |
| XM_011511731.1:c.67713C>T (TTN) | XP_011510033.1:p.His22571= | |
| XM_017004819.1:c.93756C>T (TTN) | XP_016860308.1:p.His31252= | |
| XM_017004820.1:c.89154C>T (TTN) | XP_016860309.1:p.His29718= | |
| XM_017004821.1:c.89151C>T (TTN) | XP_016860310.1:p.His29717= | |
| XM_017004822.1:c.86193C>T (TTN) | XP_016860311.1:p.His28731= | |
| XM_017004823.1:c.67809C>T (TTN) | XP_016860312.1:p.His22603= | |
| XM_024453094.1:c.89304C>T (TTN) | XP_024308862.1:p.His29768= | |
| XM_024453095.1:c.89301C>T (TTN) | XP_024308863.1:p.His29767= | |
| XM_024453096.1:c.88734C>T (TTN) | XP_024308864.1:p.His29578= | |
| XM_024453097.1:c.86076C>T (TTN) | XP_024308865.1:p.His28692= | |
| XM_024453098.1:c.85995C>T (TTN) | XP_024308866.1:p.His28665= | |
| XM_024453099.1:c.67758C>T (TTN) | XP_024308867.1:p.His22586= | |
| XM_024453100.1:c.57612C>T (TTN) | XP_024308868.1:p.His19204= |