Linked Data
ClinVar Variation Id:
405190
ClinVar RCV Id:
RCV000462005
dbSNP Id:
rs1060500595
gnomAD v2:
2-179408024-G-T
gnomAD v4:
2-178543297-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543297G>T , CM000664.2:g.178543297G>T | GRCh38 |
| NC_000002.11:g.179408024G>T , CM000664.1:g.179408024G>T | GRCh37 |
| NC_000002.10:g.179116270G>T | NCBI36 |
| NG_011618.3:g.292506C>A , LRG_391:g.292506C>A | |
| NG_051363.1:g.25471G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88972C>A (TTN) | ENSP00000343764.6:p.Pro29658Thr | |
| ENST00000342175.11:c.70057C>A (TTN) | ENSP00000340554.6:p.Pro23353Thr | |
| ENST00000359218.10:c.69856C>A (TTN) | ENSP00000352154.5:p.Pro23286Thr | |
| ENST00000342175.10:c.70057C>A (TTN) | ENSP00000340554.6:p.Pro23353Thr | |
| ENST00000342992.10:c.88972C>A (TTN) | ENSP00000343764.6:p.Pro29658Thr | |
| ENST00000359218.9:c.69856C>A (TTN) | ENSP00000352154.5:p.Pro23286Thr | |
| ENST00000460472.6:c.69481C>A (TTN) | ENSP00000434586.1:p.Pro23161Thr | |
| ENST00000589042.5:c.96676C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro32226Thr | |
| ENST00000591111.5:c.91753C>A (TTN) | ENSP00000465570.1:p.Pro30585Thr | |
| ENST00000615779.4:c.91753C>A (TTN) | ENSP00000483597.1:p.Pro30585Thr | |
| NM_001256850.1:c.91753C>A (TTN) | NP_001243779.1:p.Pro30585Thr | |
| NM_001267550.2:c.96676C>A (TTN) MANE Select | NP_001254479.2:p.Pro32226Thr | |
| NM_003319.4:c.69481C>A (TTN) | NP_003310.4:p.Pro23161Thr | |
| NM_133378.4:c.88972C>A (TTN) | NP_596869.4:p.Pro29658Thr | |
| NM_133432.3:c.69856C>A (TTN) | NP_597676.3:p.Pro23286Thr | |
| NM_133437.4:c.70057C>A (TTN) | NP_597681.4:p.Pro23353Thr | |
| NR_038271.1:n.446+19661G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+936G>T (TTN-AS1) | ||
| XM_011511729.1:c.95773C>A (TTN) | XP_011510031.1:p.Pro31925Thr | |
| XM_011511730.1:c.69667C>A (TTN) | XP_011510032.1:p.Pro23223Thr | |
| XM_011511731.1:c.69526C>A (TTN) | XP_011510033.1:p.Pro23176Thr | |
| XM_017004819.1:c.95569C>A (TTN) | XP_016860308.1:p.Pro31857Thr | |
| XM_017004820.1:c.90967C>A (TTN) | XP_016860309.1:p.Pro30323Thr | |
| XM_017004821.1:c.90964C>A (TTN) | XP_016860310.1:p.Pro30322Thr | |
| XM_017004822.1:c.88006C>A (TTN) | XP_016860311.1:p.Pro29336Thr | |
| XM_017004823.1:c.69622C>A (TTN) | XP_016860312.1:p.Pro23208Thr | |
| XM_024453094.1:c.91117C>A (TTN) | XP_024308862.1:p.Pro30373Thr | |
| XM_024453095.1:c.91114C>A (TTN) | XP_024308863.1:p.Pro30372Thr | |
| XM_024453096.1:c.90547C>A (TTN) | XP_024308864.1:p.Pro30183Thr | |
| XM_024453097.1:c.87889C>A (TTN) | XP_024308865.1:p.Pro29297Thr | |
| XM_024453098.1:c.87808C>A (TTN) | XP_024308866.1:p.Pro29270Thr | |
| XM_024453099.1:c.69571C>A (TTN) | XP_024308867.1:p.Pro23191Thr | |
| XM_024453100.1:c.59425C>A (TTN) | XP_024308868.1:p.Pro19809Thr |