Linked Data
ClinVar Variation Id:
535517
ClinVar RCV Id:
RCV001132540
RCV001132539
RCV000643543
RCV001129847
RCV001132537
RCV001132538
RCV001089358
RCV003162905
dbSNP Id:
rs372319281
ExAC:
2:179432103 A / G
gnomAD v2:
2-179432103-A-G
gnomAD v3:
2-178567376-A-G
gnomAD v4:
2-178567376-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567376A>G , CM000664.2:g.178567376A>G | GRCh38 |
| NC_000002.11:g.179432103A>G , CM000664.1:g.179432103A>G | GRCh37 |
| NC_000002.10:g.179140349A>G | NCBI36 |
| NG_011618.3:g.268427T>C , LRG_391:g.268427T>C | |
| NG_051363.1:g.49550A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71052T>C (TTN) | ENSP00000343764.6:p.Ile23684= | |
| ENST00000342175.11:c.52137T>C (TTN) | ENSP00000340554.6:p.Ile17379= | |
| ENST00000359218.10:c.51936T>C (TTN) | ENSP00000352154.5:p.Ile17312= | |
| ENST00000342175.10:c.52137T>C (TTN) | ENSP00000340554.6:p.Ile17379= | |
| ENST00000342992.10:c.71052T>C (TTN) | ENSP00000343764.6:p.Ile23684= | |
| ENST00000359218.9:c.51936T>C (TTN) | ENSP00000352154.5:p.Ile17312= | |
| ENST00000460472.6:c.51561T>C (TTN) | ENSP00000434586.1:p.Ile17187= | |
| ENST00000589042.5:c.78756T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile26252= | |
| ENST00000591111.5:c.73833T>C (TTN) | ENSP00000465570.1:p.Ile24611= | |
| ENST00000615779.4:c.73833T>C (TTN) | ENSP00000483597.1:p.Ile24611= | |
| NM_001256850.1:c.73833T>C (TTN) | NP_001243779.1:p.Ile24611= | |
| NM_001267550.2:c.78756T>C (TTN) MANE Select | NP_001254479.2:p.Ile26252= | |
| NM_003319.4:c.51561T>C (TTN) | NP_003310.4:p.Ile17187= | |
| NM_133378.4:c.71052T>C (TTN) | NP_596869.4:p.Ile23684= | |
| NM_133432.3:c.51936T>C (TTN) | NP_597676.3:p.Ile17312= | |
| NM_133437.4:c.52137T>C (TTN) | NP_597681.4:p.Ile17379= | |
| NR_038271.1:n.447-3924A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-15196A>G (TTN-AS1) | ||
| XM_011511729.1:c.77853T>C (TTN) | XP_011510031.1:p.Ile25951= | |
| XM_011511730.1:c.51747T>C (TTN) | XP_011510032.1:p.Ile17249= | |
| XM_011511731.1:c.51606T>C (TTN) | XP_011510033.1:p.Ile17202= | |
| XM_017004819.1:c.77649T>C (TTN) | XP_016860308.1:p.Ile25883= | |
| XM_017004820.1:c.73047T>C (TTN) | XP_016860309.1:p.Ile24349= | |
| XM_017004821.1:c.73044T>C (TTN) | XP_016860310.1:p.Ile24348= | |
| XM_017004822.1:c.70086T>C (TTN) | XP_016860311.1:p.Ile23362= | |
| XM_017004823.1:c.51702T>C (TTN) | XP_016860312.1:p.Ile17234= | |
| XM_024453094.1:c.73197T>C (TTN) | XP_024308862.1:p.Ile24399= | |
| XM_024453095.1:c.73194T>C (TTN) | XP_024308863.1:p.Ile24398= | |
| XM_024453096.1:c.72627T>C (TTN) | XP_024308864.1:p.Ile24209= | |
| XM_024453097.1:c.69969T>C (TTN) | XP_024308865.1:p.Ile23323= | |
| XM_024453098.1:c.69888T>C (TTN) | XP_024308866.1:p.Ile23296= | |
| XM_024453099.1:c.51651T>C (TTN) | XP_024308867.1:p.Ile17217= | |
| XM_024453100.1:c.41505T>C (TTN) | XP_024308868.1:p.Ile13835= |