Linked Data
ClinVar Variation Id:
467664
dbSNP Id:
rs375657115
ExAC:
2:179411745 C / T
gnomAD v2:
2-179411745-C-T
gnomAD v3:
2-178547018-C-T
gnomAD v4:
2-178547018-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547018C>T , CM000664.2:g.178547018C>T | GRCh38 |
| NC_000002.11:g.179411745C>T , CM000664.1:g.179411745C>T | GRCh37 |
| NC_000002.10:g.179119991C>T | NCBI36 |
| NG_011618.3:g.288785G>A , LRG_391:g.288785G>A | |
| NG_051363.1:g.29192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86803G>A (TTN) | ENSP00000343764.6:p.Ala28935Thr | |
| ENST00000342175.11:c.67888G>A (TTN) | ENSP00000340554.6:p.Ala22630Thr | |
| ENST00000359218.10:c.67687G>A (TTN) | ENSP00000352154.5:p.Ala22563Thr | |
| ENST00000342175.10:c.67888G>A (TTN) | ENSP00000340554.6:p.Ala22630Thr | |
| ENST00000342992.10:c.86803G>A (TTN) | ENSP00000343764.6:p.Ala28935Thr | |
| ENST00000359218.9:c.67687G>A (TTN) | ENSP00000352154.5:p.Ala22563Thr | |
| ENST00000460472.6:c.67312G>A (TTN) | ENSP00000434586.1:p.Ala22438Thr | |
| ENST00000589042.5:c.94507G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala31503Thr | |
| ENST00000591111.5:c.89584G>A (TTN) | ENSP00000465570.1:p.Ala29862Thr | |
| ENST00000615779.4:c.89584G>A (TTN) | ENSP00000483597.1:p.Ala29862Thr | |
| NM_001256850.1:c.89584G>A (TTN) | NP_001243779.1:p.Ala29862Thr | |
| NM_001267550.2:c.94507G>A (TTN) MANE Select | NP_001254479.2:p.Ala31503Thr | |
| NM_003319.4:c.67312G>A (TTN) | NP_003310.4:p.Ala22438Thr | |
| NM_133378.4:c.86803G>A (TTN) | NP_596869.4:p.Ala28935Thr | |
| NM_133432.3:c.67687G>A (TTN) | NP_597676.3:p.Ala22563Thr | |
| NM_133437.4:c.67888G>A (TTN) | NP_597681.4:p.Ala22630Thr | |
| NR_038271.1:n.446+23382C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4657C>T (TTN-AS1) | ||
| XM_011511729.1:c.93604G>A (TTN) | XP_011510031.1:p.Ala31202Thr | |
| XM_011511730.1:c.67498G>A (TTN) | XP_011510032.1:p.Ala22500Thr | |
| XM_011511731.1:c.67357G>A (TTN) | XP_011510033.1:p.Ala22453Thr | |
| XM_017004819.1:c.93400G>A (TTN) | XP_016860308.1:p.Ala31134Thr | |
| XM_017004820.1:c.88798G>A (TTN) | XP_016860309.1:p.Ala29600Thr | |
| XM_017004821.1:c.88795G>A (TTN) | XP_016860310.1:p.Ala29599Thr | |
| XM_017004822.1:c.85837G>A (TTN) | XP_016860311.1:p.Ala28613Thr | |
| XM_017004823.1:c.67453G>A (TTN) | XP_016860312.1:p.Ala22485Thr | |
| XM_024453094.1:c.88948G>A (TTN) | XP_024308862.1:p.Ala29650Thr | |
| XM_024453095.1:c.88945G>A (TTN) | XP_024308863.1:p.Ala29649Thr | |
| XM_024453096.1:c.88378G>A (TTN) | XP_024308864.1:p.Ala29460Thr | |
| XM_024453097.1:c.85720G>A (TTN) | XP_024308865.1:p.Ala28574Thr | |
| XM_024453098.1:c.85639G>A (TTN) | XP_024308866.1:p.Ala28547Thr | |
| XM_024453099.1:c.67402G>A (TTN) | XP_024308867.1:p.Ala22468Thr | |
| XM_024453100.1:c.57256G>A (TTN) | XP_024308868.1:p.Ala19086Thr |