Linked Data
ClinVar Variation Id:
518902
dbSNP Id:
rs1178033234
gnomAD v2:
2-179432859-T-C
gnomAD v3:
2-178568132-T-C
gnomAD v4:
2-178568132-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568132T>C , CM000664.2:g.178568132T>C | GRCh38 |
| NC_000002.11:g.179432859T>C , CM000664.1:g.179432859T>C | GRCh37 |
| NC_000002.10:g.179141105T>C | NCBI36 |
| NG_011618.3:g.267671A>G , LRG_391:g.267671A>G | |
| NG_051363.1:g.50306T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70296A>G (TTN) | ENSP00000343764.6:p.Thr23432= | |
| ENST00000342175.11:c.51381A>G (TTN) | ENSP00000340554.6:p.Thr17127= | |
| ENST00000359218.10:c.51180A>G (TTN) | ENSP00000352154.5:p.Thr17060= | |
| ENST00000342175.10:c.51381A>G (TTN) | ENSP00000340554.6:p.Thr17127= | |
| ENST00000342992.10:c.70296A>G (TTN) | ENSP00000343764.6:p.Thr23432= | |
| ENST00000359218.9:c.51180A>G (TTN) | ENSP00000352154.5:p.Thr17060= | |
| ENST00000460472.6:c.50805A>G (TTN) | ENSP00000434586.1:p.Thr16935= | |
| ENST00000589042.5:c.78000A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr26000= | |
| ENST00000591111.5:c.73077A>G (TTN) | ENSP00000465570.1:p.Thr24359= | |
| ENST00000615779.4:c.73077A>G (TTN) | ENSP00000483597.1:p.Thr24359= | |
| NM_001256850.1:c.73077A>G (TTN) | NP_001243779.1:p.Thr24359= | |
| NM_001267550.2:c.78000A>G (TTN) MANE Select | NP_001254479.2:p.Thr26000= | |
| NM_003319.4:c.50805A>G (TTN) | NP_003310.4:p.Thr16935= | |
| NM_133378.4:c.70296A>G (TTN) | NP_596869.4:p.Thr23432= | |
| NM_133432.3:c.51180A>G (TTN) | NP_597676.3:p.Thr17060= | |
| NM_133437.4:c.51381A>G (TTN) | NP_597681.4:p.Thr17127= | |
| NR_038271.1:n.447-3168T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-14440T>C (TTN-AS1) | ||
| XM_011511729.1:c.77097A>G (TTN) | XP_011510031.1:p.Thr25699= | |
| XM_011511730.1:c.50991A>G (TTN) | XP_011510032.1:p.Thr16997= | |
| XM_011511731.1:c.50850A>G (TTN) | XP_011510033.1:p.Thr16950= | |
| XM_017004819.1:c.76893A>G (TTN) | XP_016860308.1:p.Thr25631= | |
| XM_017004820.1:c.72291A>G (TTN) | XP_016860309.1:p.Thr24097= | |
| XM_017004821.1:c.72288A>G (TTN) | XP_016860310.1:p.Thr24096= | |
| XM_017004822.1:c.69330A>G (TTN) | XP_016860311.1:p.Thr23110= | |
| XM_017004823.1:c.50946A>G (TTN) | XP_016860312.1:p.Thr16982= | |
| XM_024453094.1:c.72441A>G (TTN) | XP_024308862.1:p.Thr24147= | |
| XM_024453095.1:c.72438A>G (TTN) | XP_024308863.1:p.Thr24146= | |
| XM_024453096.1:c.71871A>G (TTN) | XP_024308864.1:p.Thr23957= | |
| XM_024453097.1:c.69213A>G (TTN) | XP_024308865.1:p.Thr23071= | |
| XM_024453098.1:c.69132A>G (TTN) | XP_024308866.1:p.Thr23044= | |
| XM_024453099.1:c.50895A>G (TTN) | XP_024308867.1:p.Thr16965= | |
| XM_024453100.1:c.40749A>G (TTN) | XP_024308868.1:p.Thr13583= |