Linked Data
ClinVar Variation Id:
1087104
ClinVar RCV Id:
RCV001405076
dbSNP Id:
rs1242603048
gnomAD v2:
2-179411607-T-A
gnomAD v4:
2-178546880-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546880T>A , CM000664.2:g.178546880T>A | GRCh38 |
| NC_000002.11:g.179411607T>A , CM000664.1:g.179411607T>A | GRCh37 |
| NC_000002.10:g.179119853T>A | NCBI36 |
| NG_011618.3:g.288923A>T , LRG_391:g.288923A>T | |
| NG_051363.1:g.29054T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86844A>T (TTN) | ENSP00000343764.6:p.Thr28948= | |
| ENST00000342175.11:c.67929A>T (TTN) | ENSP00000340554.6:p.Thr22643= | |
| ENST00000359218.10:c.67728A>T (TTN) | ENSP00000352154.5:p.Thr22576= | |
| ENST00000342175.10:c.67929A>T (TTN) | ENSP00000340554.6:p.Thr22643= | |
| ENST00000342992.10:c.86844A>T (TTN) | ENSP00000343764.6:p.Thr28948= | |
| ENST00000359218.9:c.67728A>T (TTN) | ENSP00000352154.5:p.Thr22576= | |
| ENST00000460472.6:c.67353A>T (TTN) | ENSP00000434586.1:p.Thr22451= | |
| ENST00000589042.5:c.94548A>T (TTN) MANE Select | ENSP00000467141.1:p.Thr31516= | |
| ENST00000591111.5:c.89625A>T (TTN) | ENSP00000465570.1:p.Thr29875= | |
| ENST00000615779.4:c.89625A>T (TTN) | ENSP00000483597.1:p.Thr29875= | |
| NM_001256850.1:c.89625A>T (TTN) | NP_001243779.1:p.Thr29875= | |
| NM_001267550.2:c.94548A>T (TTN) MANE Select | NP_001254479.2:p.Thr31516= | |
| NM_003319.4:c.67353A>T (TTN) | NP_003310.4:p.Thr22451= | |
| NM_133378.4:c.86844A>T (TTN) | NP_596869.4:p.Thr28948= | |
| NM_133432.3:c.67728A>T (TTN) | NP_597676.3:p.Thr22576= | |
| NM_133437.4:c.67929A>T (TTN) | NP_597681.4:p.Thr22643= | |
| NR_038271.1:n.446+23244T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+4519T>A (TTN-AS1) | ||
| XM_011511729.1:c.93645A>T (TTN) | XP_011510031.1:p.Thr31215= | |
| XM_011511730.1:c.67539A>T (TTN) | XP_011510032.1:p.Thr22513= | |
| XM_011511731.1:c.67398A>T (TTN) | XP_011510033.1:p.Thr22466= | |
| XM_017004819.1:c.93441A>T (TTN) | XP_016860308.1:p.Thr31147= | |
| XM_017004820.1:c.88839A>T (TTN) | XP_016860309.1:p.Thr29613= | |
| XM_017004821.1:c.88836A>T (TTN) | XP_016860310.1:p.Thr29612= | |
| XM_017004822.1:c.85878A>T (TTN) | XP_016860311.1:p.Thr28626= | |
| XM_017004823.1:c.67494A>T (TTN) | XP_016860312.1:p.Thr22498= | |
| XM_024453094.1:c.88989A>T (TTN) | XP_024308862.1:p.Thr29663= | |
| XM_024453095.1:c.88986A>T (TTN) | XP_024308863.1:p.Thr29662= | |
| XM_024453096.1:c.88419A>T (TTN) | XP_024308864.1:p.Thr29473= | |
| XM_024453097.1:c.85761A>T (TTN) | XP_024308865.1:p.Thr28587= | |
| XM_024453098.1:c.85680A>T (TTN) | XP_024308866.1:p.Thr28560= | |
| XM_024453099.1:c.67443A>T (TTN) | XP_024308867.1:p.Thr22481= | |
| XM_024453100.1:c.57297A>T (TTN) | XP_024308868.1:p.Thr19099= |