Linked Data
ClinVar Variation Id:
202330
ClinVar RCV Id:
RCV000643839
RCV000727067
RCV001133727
RCV001130755
RCV001130756
RCV001130754
RCV001133726
RCV002336471
dbSNP Id:
rs199514898
ExAC:
2:179433205 A / G
gnomAD v2:
2-179433205-A-G
gnomAD v3:
2-178568478-A-G
gnomAD v4:
2-178568478-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568478A>G , CM000664.2:g.178568478A>G | GRCh38 |
| NC_000002.11:g.179433205A>G , CM000664.1:g.179433205A>G | GRCh37 |
| NC_000002.10:g.179141451A>G | NCBI36 |
| NG_011618.3:g.267325T>C , LRG_391:g.267325T>C | |
| NG_051363.1:g.50652A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69950T>C (TTN) | ENSP00000343764.6:p.Ile23317Thr | |
| ENST00000342175.11:c.51035T>C (TTN) | ENSP00000340554.6:p.Ile17012Thr | |
| ENST00000359218.10:c.50834T>C (TTN) | ENSP00000352154.5:p.Ile16945Thr | |
| ENST00000342175.10:c.51035T>C (TTN) | ENSP00000340554.6:p.Ile17012Thr | |
| ENST00000342992.10:c.69950T>C (TTN) | ENSP00000343764.6:p.Ile23317Thr | |
| ENST00000359218.9:c.50834T>C (TTN) | ENSP00000352154.5:p.Ile16945Thr | |
| ENST00000460472.6:c.50459T>C (TTN) | ENSP00000434586.1:p.Ile16820Thr | |
| ENST00000589042.5:c.77654T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile25885Thr | |
| ENST00000591111.5:c.72731T>C (TTN) | ENSP00000465570.1:p.Ile24244Thr | |
| ENST00000615779.4:c.72731T>C (TTN) | ENSP00000483597.1:p.Ile24244Thr | |
| NM_001256850.1:c.72731T>C (TTN) | NP_001243779.1:p.Ile24244Thr | |
| NM_001267550.2:c.77654T>C (TTN) MANE Select | NP_001254479.2:p.Ile25885Thr | |
| NM_003319.4:c.50459T>C (TTN) | NP_003310.4:p.Ile16820Thr | |
| NM_133378.4:c.69950T>C (TTN) | NP_596869.4:p.Ile23317Thr | |
| NM_133432.3:c.50834T>C (TTN) | NP_597676.3:p.Ile16945Thr | |
| NM_133437.4:c.51035T>C (TTN) | NP_597681.4:p.Ile17012Thr | |
| NR_038271.1:n.447-2822A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-14094A>G (TTN-AS1) | ||
| XM_011511729.1:c.76751T>C (TTN) | XP_011510031.1:p.Ile25584Thr | |
| XM_011511730.1:c.50645T>C (TTN) | XP_011510032.1:p.Ile16882Thr | |
| XM_011511731.1:c.50504T>C (TTN) | XP_011510033.1:p.Ile16835Thr | |
| XM_017004819.1:c.76547T>C (TTN) | XP_016860308.1:p.Ile25516Thr | |
| XM_017004820.1:c.71945T>C (TTN) | XP_016860309.1:p.Ile23982Thr | |
| XM_017004821.1:c.71942T>C (TTN) | XP_016860310.1:p.Ile23981Thr | |
| XM_017004822.1:c.68984T>C (TTN) | XP_016860311.1:p.Ile22995Thr | |
| XM_017004823.1:c.50600T>C (TTN) | XP_016860312.1:p.Ile16867Thr | |
| XM_024453094.1:c.72095T>C (TTN) | XP_024308862.1:p.Ile24032Thr | |
| XM_024453095.1:c.72092T>C (TTN) | XP_024308863.1:p.Ile24031Thr | |
| XM_024453096.1:c.71525T>C (TTN) | XP_024308864.1:p.Ile23842Thr | |
| XM_024453097.1:c.68867T>C (TTN) | XP_024308865.1:p.Ile22956Thr | |
| XM_024453098.1:c.68786T>C (TTN) | XP_024308866.1:p.Ile22929Thr | |
| XM_024453099.1:c.50549T>C (TTN) | XP_024308867.1:p.Ile16850Thr | |
| XM_024453100.1:c.40403T>C (TTN) | XP_024308868.1:p.Ile13468Thr |