Linked Data
ClinVar Variation Id:
467352
ClinVar RCV Id:
RCV000525012
RCV001131161
RCV001131160
RCV001134118
RCV001131159
RCV001134117
RCV001722493
RCV002456149
dbSNP Id:
rs749180542
ExAC:
2:179453749 T / C
gnomAD v2:
2-179453749-T-C
gnomAD v3:
2-178589022-T-C
gnomAD v4:
2-178589022-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589022T>C , CM000664.2:g.178589022T>C | GRCh38 |
| NC_000002.11:g.179453749T>C , CM000664.1:g.179453749T>C | GRCh37 |
| NC_000002.10:g.179161995T>C | NCBI36 |
| NG_011618.3:g.246781A>G , LRG_391:g.246781A>G | |
| NG_051363.1:g.71196T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54999A>G (TTN) | ENSP00000343764.6:p.Leu18333= | |
| ENST00000342175.11:c.36084A>G (TTN) | ENSP00000340554.6:p.Leu12028= | |
| ENST00000359218.10:c.35883A>G (TTN) | ENSP00000352154.5:p.Leu11961= | |
| ENST00000342175.10:c.36084A>G (TTN) | ENSP00000340554.6:p.Leu12028= | |
| ENST00000342992.10:c.54999A>G (TTN) | ENSP00000343764.6:p.Leu18333= | |
| ENST00000359218.9:c.35883A>G (TTN) | ENSP00000352154.5:p.Leu11961= | |
| ENST00000460472.6:c.35508A>G (TTN) | ENSP00000434586.1:p.Leu11836= | |
| ENST00000589042.5:c.62703A>G (TTN) MANE Select | ENSP00000467141.1:p.Leu20901= | |
| ENST00000591111.5:c.57780A>G (TTN) | ENSP00000465570.1:p.Leu19260= | |
| ENST00000615779.4:c.57780A>G (TTN) | ENSP00000483597.1:p.Leu19260= | |
| NM_001256850.1:c.57780A>G (TTN) | NP_001243779.1:p.Leu19260= | |
| NM_001267550.2:c.62703A>G (TTN) MANE Select | NP_001254479.2:p.Leu20901= | |
| NM_003319.4:c.35508A>G (TTN) | NP_003310.4:p.Leu11836= | |
| NM_133378.4:c.54999A>G (TTN) | NP_596869.4:p.Leu18333= | |
| NM_133432.3:c.35883A>G (TTN) | NP_597676.3:p.Leu11961= | |
| NM_133437.4:c.36084A>G (TTN) | NP_597681.4:p.Leu12028= | |
| NR_038271.1:n.597-8574T>C (TTN-AS1) | ||
| NR_038272.1:n.3189-2117T>C (TTN-AS1) | ||
| XM_011511729.1:c.61800A>G (TTN) | XP_011510031.1:p.Leu20600= | |
| XM_011511730.1:c.35694A>G (TTN) | XP_011510032.1:p.Leu11898= | |
| XM_011511731.1:c.35553A>G (TTN) | XP_011510033.1:p.Leu11851= | |
| XM_017004819.1:c.61596A>G (TTN) | XP_016860308.1:p.Leu20532= | |
| XM_017004820.1:c.56994A>G (TTN) | XP_016860309.1:p.Leu18998= | |
| XM_017004821.1:c.56991A>G (TTN) | XP_016860310.1:p.Leu18997= | |
| XM_017004822.1:c.54033A>G (TTN) | XP_016860311.1:p.Leu18011= | |
| XM_017004823.1:c.35649A>G (TTN) | XP_016860312.1:p.Leu11883= | |
| XM_024453094.1:c.57144A>G (TTN) | XP_024308862.1:p.Leu19048= | |
| XM_024453095.1:c.57141A>G (TTN) | XP_024308863.1:p.Leu19047= | |
| XM_024453096.1:c.56574A>G (TTN) | XP_024308864.1:p.Leu18858= | |
| XM_024453097.1:c.53916A>G (TTN) | XP_024308865.1:p.Leu17972= | |
| XM_024453098.1:c.53835A>G (TTN) | XP_024308866.1:p.Leu17945= | |
| XM_024453099.1:c.35598A>G (TTN) | XP_024308867.1:p.Leu11866= | |
| XM_024453100.1:c.25452A>G (TTN) | XP_024308868.1:p.Leu8484= |