Linked Data
ClinVar Variation Id:
467511
ClinVar RCV Id:
RCV000556034
RCV000836314
RCV001134958
RCV001134959
RCV001134960
RCV001134961
RCV001134962
dbSNP Id:
rs183015944
ExAC:
2:179432428 A / G
gnomAD v2:
2-179432428-A-G
gnomAD v3:
2-178567701-A-G
gnomAD v4:
2-178567701-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567701A>G , CM000664.2:g.178567701A>G | GRCh38 |
| NC_000002.11:g.179432428A>G , CM000664.1:g.179432428A>G | GRCh37 |
| NC_000002.10:g.179140674A>G | NCBI36 |
| NG_011618.3:g.268102T>C , LRG_391:g.268102T>C | |
| NG_051363.1:g.49875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70727T>C (TTN) | ENSP00000343764.6:p.Ile23576Thr | |
| ENST00000342175.11:c.51812T>C (TTN) | ENSP00000340554.6:p.Ile17271Thr | |
| ENST00000359218.10:c.51611T>C (TTN) | ENSP00000352154.5:p.Ile17204Thr | |
| ENST00000342175.10:c.51812T>C (TTN) | ENSP00000340554.6:p.Ile17271Thr | |
| ENST00000342992.10:c.70727T>C (TTN) | ENSP00000343764.6:p.Ile23576Thr | |
| ENST00000359218.9:c.51611T>C (TTN) | ENSP00000352154.5:p.Ile17204Thr | |
| ENST00000460472.6:c.51236T>C (TTN) | ENSP00000434586.1:p.Ile17079Thr | |
| ENST00000589042.5:c.78431T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile26144Thr | |
| ENST00000591111.5:c.73508T>C (TTN) | ENSP00000465570.1:p.Ile24503Thr | |
| ENST00000615779.4:c.73508T>C (TTN) | ENSP00000483597.1:p.Ile24503Thr | |
| NM_001256850.1:c.73508T>C (TTN) | NP_001243779.1:p.Ile24503Thr | |
| NM_001267550.2:c.78431T>C (TTN) MANE Select | NP_001254479.2:p.Ile26144Thr | |
| NM_003319.4:c.51236T>C (TTN) | NP_003310.4:p.Ile17079Thr | |
| NM_133378.4:c.70727T>C (TTN) | NP_596869.4:p.Ile23576Thr | |
| NM_133432.3:c.51611T>C (TTN) | NP_597676.3:p.Ile17204Thr | |
| NM_133437.4:c.51812T>C (TTN) | NP_597681.4:p.Ile17271Thr | |
| NR_038271.1:n.447-3599A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-14871A>G (TTN-AS1) | ||
| XM_011511729.1:c.77528T>C (TTN) | XP_011510031.1:p.Ile25843Thr | |
| XM_011511730.1:c.51422T>C (TTN) | XP_011510032.1:p.Ile17141Thr | |
| XM_011511731.1:c.51281T>C (TTN) | XP_011510033.1:p.Ile17094Thr | |
| XM_017004819.1:c.77324T>C (TTN) | XP_016860308.1:p.Ile25775Thr | |
| XM_017004820.1:c.72722T>C (TTN) | XP_016860309.1:p.Ile24241Thr | |
| XM_017004821.1:c.72719T>C (TTN) | XP_016860310.1:p.Ile24240Thr | |
| XM_017004822.1:c.69761T>C (TTN) | XP_016860311.1:p.Ile23254Thr | |
| XM_017004823.1:c.51377T>C (TTN) | XP_016860312.1:p.Ile17126Thr | |
| XM_024453094.1:c.72872T>C (TTN) | XP_024308862.1:p.Ile24291Thr | |
| XM_024453095.1:c.72869T>C (TTN) | XP_024308863.1:p.Ile24290Thr | |
| XM_024453096.1:c.72302T>C (TTN) | XP_024308864.1:p.Ile24101Thr | |
| XM_024453097.1:c.69644T>C (TTN) | XP_024308865.1:p.Ile23215Thr | |
| XM_024453098.1:c.69563T>C (TTN) | XP_024308866.1:p.Ile23188Thr | |
| XM_024453099.1:c.51326T>C (TTN) | XP_024308867.1:p.Ile17109Thr | |
| XM_024453100.1:c.41180T>C (TTN) | XP_024308868.1:p.Ile13727Thr |