Linked Data
ClinVar Variation Id:
229507
dbSNP Id:
rs369671334
ExAC:
2:179438528 C / G
gnomAD v2:
2-179438528-C-G
gnomAD v3:
2-178573801-C-G
gnomAD v4:
2-178573801-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573801C>G , CM000664.2:g.178573801C>G | GRCh38 |
| NC_000002.11:g.179438528C>G , CM000664.1:g.179438528C>G | GRCh37 |
| NC_000002.10:g.179146774C>G | NCBI36 |
| NG_011618.3:g.262002G>C , LRG_391:g.262002G>C | |
| NG_051363.1:g.55975C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64627G>C (TTN) | ENSP00000343764.6:p.Ala21543Pro | |
| ENST00000342175.11:c.45712G>C (TTN) | ENSP00000340554.6:p.Ala15238Pro | |
| ENST00000359218.10:c.45511G>C (TTN) | ENSP00000352154.5:p.Ala15171Pro | |
| ENST00000342175.10:c.45712G>C (TTN) | ENSP00000340554.6:p.Ala15238Pro | |
| ENST00000342992.10:c.64627G>C (TTN) | ENSP00000343764.6:p.Ala21543Pro | |
| ENST00000359218.9:c.45511G>C (TTN) | ENSP00000352154.5:p.Ala15171Pro | |
| ENST00000460472.6:c.45136G>C (TTN) | ENSP00000434586.1:p.Ala15046Pro | |
| ENST00000589042.5:c.72331G>C (TTN) MANE Select | ENSP00000467141.1:p.Ala24111Pro | |
| ENST00000591111.5:c.67408G>C (TTN) | ENSP00000465570.1:p.Ala22470Pro | |
| ENST00000615779.4:c.67408G>C (TTN) | ENSP00000483597.1:p.Ala22470Pro | |
| NM_001256850.1:c.67408G>C (TTN) | NP_001243779.1:p.Ala22470Pro | |
| NM_001267550.2:c.72331G>C (TTN) MANE Select | NP_001254479.2:p.Ala24111Pro | |
| NM_003319.4:c.45136G>C (TTN) | NP_003310.4:p.Ala15046Pro | |
| NM_133378.4:c.64627G>C (TTN) | NP_596869.4:p.Ala21543Pro | |
| NM_133432.3:c.45511G>C (TTN) | NP_597676.3:p.Ala15171Pro | |
| NM_133437.4:c.45712G>C (TTN) | NP_597681.4:p.Ala15238Pro | |
| NR_038271.1:n.596+2352C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8771C>G (TTN-AS1) | ||
| XM_011511729.1:c.71428G>C (TTN) | XP_011510031.1:p.Ala23810Pro | |
| XM_011511730.1:c.45322G>C (TTN) | XP_011510032.1:p.Ala15108Pro | |
| XM_011511731.1:c.45181G>C (TTN) | XP_011510033.1:p.Ala15061Pro | |
| XM_017004819.1:c.71224G>C (TTN) | XP_016860308.1:p.Ala23742Pro | |
| XM_017004820.1:c.66622G>C (TTN) | XP_016860309.1:p.Ala22208Pro | |
| XM_017004821.1:c.66619G>C (TTN) | XP_016860310.1:p.Ala22207Pro | |
| XM_017004822.1:c.63661G>C (TTN) | XP_016860311.1:p.Ala21221Pro | |
| XM_017004823.1:c.45277G>C (TTN) | XP_016860312.1:p.Ala15093Pro | |
| XM_024453094.1:c.66772G>C (TTN) | XP_024308862.1:p.Ala22258Pro | |
| XM_024453095.1:c.66769G>C (TTN) | XP_024308863.1:p.Ala22257Pro | |
| XM_024453096.1:c.66202G>C (TTN) | XP_024308864.1:p.Ala22068Pro | |
| XM_024453097.1:c.63544G>C (TTN) | XP_024308865.1:p.Ala21182Pro | |
| XM_024453098.1:c.63463G>C (TTN) | XP_024308866.1:p.Ala21155Pro | |
| XM_024453099.1:c.45226G>C (TTN) | XP_024308867.1:p.Ala15076Pro | |
| XM_024453100.1:c.35080G>C (TTN) | XP_024308868.1:p.Ala11694Pro |