Linked Data
ClinVar Variation Id:
167782
dbSNP Id:
rs727504195
gnomAD v2:
2-179483378-C-T
gnomAD v3:
2-178618651-C-T
gnomAD v4:
2-178618651-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618651C>T , CM000664.2:g.178618651C>T | GRCh38 |
| NC_000002.11:g.179483378C>T , CM000664.1:g.179483378C>T | GRCh37 |
| NC_000002.10:g.179191623C>T | NCBI36 |
| NG_011618.3:g.217152G>A , LRG_391:g.217152G>A | |
| NG_051363.1:g.100825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39195G>A (TTN) | ENSP00000343764.6:p.Gly13065= | |
| ENST00000342175.11:c.20280G>A (TTN) | ENSP00000340554.6:p.Gly6760= | |
| ENST00000359218.10:c.20079G>A (TTN) | ENSP00000352154.5:p.Gly6693= | |
| ENST00000342175.10:c.20280G>A (TTN) | ENSP00000340554.6:p.Gly6760= | |
| ENST00000342992.10:c.39195G>A (TTN) | ENSP00000343764.6:p.Gly13065= | |
| ENST00000359218.9:c.20079G>A (TTN) | ENSP00000352154.5:p.Gly6693= | |
| ENST00000460472.6:c.19704G>A (TTN) | ENSP00000434586.1:p.Gly6568= | |
| ENST00000589042.5:c.46899G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly15633= | |
| ENST00000591111.5:c.41976G>A (TTN) | ENSP00000465570.1:p.Gly13992= | |
| ENST00000615779.4:c.41976G>A (TTN) | ENSP00000483597.1:p.Gly13992= | |
| NM_001256850.1:c.41976G>A (TTN) | NP_001243779.1:p.Gly13992= | |
| NM_001267550.2:c.46899G>A (TTN) MANE Select | NP_001254479.2:p.Gly15633= | |
| NM_003319.4:c.19704G>A (TTN) | NP_003310.4:p.Gly6568= | |
| NM_133378.4:c.39195G>A (TTN) | NP_596869.4:p.Gly13065= | |
| NM_133432.3:c.20079G>A (TTN) | NP_597676.3:p.Gly6693= | |
| NM_133437.4:c.20280G>A (TTN) | NP_597681.4:p.Gly6760= | |
| NR_038271.1:n.1605-1102C>T (TTN-AS1) | ||
| XM_011511729.1:c.45996G>A (TTN) | XP_011510031.1:p.Gly15332= | |
| XM_011511730.1:c.19890G>A (TTN) | XP_011510032.1:p.Gly6630= | |
| XM_011511731.1:c.19749G>A (TTN) | XP_011510033.1:p.Gly6583= | |
| XM_017004819.1:c.45792G>A (TTN) | XP_016860308.1:p.Gly15264= | |
| XM_017004820.1:c.41190G>A (TTN) | XP_016860309.1:p.Gly13730= | |
| XM_017004821.1:c.41187G>A (TTN) | XP_016860310.1:p.Gly13729= | |
| XM_017004822.1:c.38229G>A (TTN) | XP_016860311.1:p.Gly12743= | |
| XM_017004823.1:c.19845G>A (TTN) | XP_016860312.1:p.Gly6615= | |
| XM_024453094.1:c.41340G>A (TTN) | XP_024308862.1:p.Gly13780= | |
| XM_024453095.1:c.41337G>A (TTN) | XP_024308863.1:p.Gly13779= | |
| XM_024453096.1:c.40770G>A (TTN) | XP_024308864.1:p.Gly13590= | |
| XM_024453097.1:c.38112G>A (TTN) | XP_024308865.1:p.Gly12704= | |
| XM_024453098.1:c.38031G>A (TTN) | XP_024308866.1:p.Gly12677= | |
| XM_024453099.1:c.19794G>A (TTN) | XP_024308867.1:p.Gly6598= | |
| XM_024453100.1:c.9648G>A (TTN) | XP_024308868.1:p.Gly3216= |