Linked Data
ClinVar Variation Id:
535329
dbSNP Id:
rs752176305
ExAC:
2:179448343 C / T
gnomAD v2:
2-179448343-C-T
gnomAD v3:
2-178583616-C-T
gnomAD v4:
2-178583616-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583616C>T , CM000664.2:g.178583616C>T | GRCh38 |
| NC_000002.11:g.179448343C>T , CM000664.1:g.179448343C>T | GRCh37 |
| NC_000002.10:g.179156589C>T | NCBI36 |
| NG_011618.3:g.252187G>A , LRG_391:g.252187G>A | |
| NG_051363.1:g.65790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57862G>A (TTN) | ENSP00000343764.6:p.Ala19288Thr | |
| ENST00000342175.11:c.38947G>A (TTN) | ENSP00000340554.6:p.Ala12983Thr | |
| ENST00000359218.10:c.38746G>A (TTN) | ENSP00000352154.5:p.Ala12916Thr | |
| ENST00000342175.10:c.38947G>A (TTN) | ENSP00000340554.6:p.Ala12983Thr | |
| ENST00000342992.10:c.57862G>A (TTN) | ENSP00000343764.6:p.Ala19288Thr | |
| ENST00000359218.9:c.38746G>A (TTN) | ENSP00000352154.5:p.Ala12916Thr | |
| ENST00000460472.6:c.38371G>A (TTN) | ENSP00000434586.1:p.Ala12791Thr | |
| ENST00000589042.5:c.65566G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala21856Thr | |
| ENST00000591111.5:c.60643G>A (TTN) | ENSP00000465570.1:p.Ala20215Thr | |
| ENST00000615779.4:c.60643G>A (TTN) | ENSP00000483597.1:p.Ala20215Thr | |
| NM_001256850.1:c.60643G>A (TTN) | NP_001243779.1:p.Ala20215Thr | |
| NM_001267550.2:c.65566G>A (TTN) MANE Select | NP_001254479.2:p.Ala21856Thr | |
| NM_003319.4:c.38371G>A (TTN) | NP_003310.4:p.Ala12791Thr | |
| NM_133378.4:c.57862G>A (TTN) | NP_596869.4:p.Ala19288Thr | |
| NM_133432.3:c.38746G>A (TTN) | NP_597676.3:p.Ala12916Thr | |
| NM_133437.4:c.38947G>A (TTN) | NP_597681.4:p.Ala12983Thr | |
| NR_038271.1:n.596+12167C>T (TTN-AS1) | ||
| NR_038272.1:n.2462C>T (TTN-AS1) | ||
| XM_011511729.1:c.64663G>A (TTN) | XP_011510031.1:p.Ala21555Thr | |
| XM_011511730.1:c.38557G>A (TTN) | XP_011510032.1:p.Ala12853Thr | |
| XM_011511731.1:c.38416G>A (TTN) | XP_011510033.1:p.Ala12806Thr | |
| XM_017004819.1:c.64459G>A (TTN) | XP_016860308.1:p.Ala21487Thr | |
| XM_017004820.1:c.59857G>A (TTN) | XP_016860309.1:p.Ala19953Thr | |
| XM_017004821.1:c.59854G>A (TTN) | XP_016860310.1:p.Ala19952Thr | |
| XM_017004822.1:c.56896G>A (TTN) | XP_016860311.1:p.Ala18966Thr | |
| XM_017004823.1:c.38512G>A (TTN) | XP_016860312.1:p.Ala12838Thr | |
| XM_024453094.1:c.60007G>A (TTN) | XP_024308862.1:p.Ala20003Thr | |
| XM_024453095.1:c.60004G>A (TTN) | XP_024308863.1:p.Ala20002Thr | |
| XM_024453096.1:c.59437G>A (TTN) | XP_024308864.1:p.Ala19813Thr | |
| XM_024453097.1:c.56779G>A (TTN) | XP_024308865.1:p.Ala18927Thr | |
| XM_024453098.1:c.56698G>A (TTN) | XP_024308866.1:p.Ala18900Thr | |
| XM_024453099.1:c.38461G>A (TTN) | XP_024308867.1:p.Ala12821Thr | |
| XM_024453100.1:c.28315G>A (TTN) | XP_024308868.1:p.Ala9439Thr |