Linked Data
ClinVar Variation Id:
698417
dbSNP Id:
rs879211202
gnomAD v2:
2-179414571-T-A
gnomAD v3:
2-178549844-T-A
gnomAD v4:
2-178549844-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549844T>A , CM000664.2:g.178549844T>A | GRCh38 |
| NC_000002.11:g.179414571T>A , CM000664.1:g.179414571T>A | GRCh37 |
| NC_000002.10:g.179122817T>A | NCBI36 |
| NG_011618.3:g.285959A>T , LRG_391:g.285959A>T | |
| NG_051363.1:g.32018T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84174A>T (TTN) | ENSP00000343764.6:p.Pro28058= | |
| ENST00000342175.11:c.65259A>T (TTN) | ENSP00000340554.6:p.Pro21753= | |
| ENST00000359218.10:c.65058A>T (TTN) | ENSP00000352154.5:p.Pro21686= | |
| ENST00000342175.10:c.65259A>T (TTN) | ENSP00000340554.6:p.Pro21753= | |
| ENST00000342992.10:c.84174A>T (TTN) | ENSP00000343764.6:p.Pro28058= | |
| ENST00000359218.9:c.65058A>T (TTN) | ENSP00000352154.5:p.Pro21686= | |
| ENST00000460472.6:c.64683A>T (TTN) | ENSP00000434586.1:p.Pro21561= | |
| ENST00000589042.5:c.91878A>T (TTN) MANE Select | ENSP00000467141.1:p.Pro30626= | |
| ENST00000591111.5:c.86955A>T (TTN) | ENSP00000465570.1:p.Pro28985= | |
| ENST00000615779.4:c.86955A>T (TTN) | ENSP00000483597.1:p.Pro28985= | |
| NM_001256850.1:c.86955A>T (TTN) | NP_001243779.1:p.Pro28985= | |
| NM_001267550.2:c.91878A>T (TTN) MANE Select | NP_001254479.2:p.Pro30626= | |
| NM_003319.4:c.64683A>T (TTN) | NP_003310.4:p.Pro21561= | |
| NM_133378.4:c.84174A>T (TTN) | NP_596869.4:p.Pro28058= | |
| NM_133432.3:c.65058A>T (TTN) | NP_597676.3:p.Pro21686= | |
| NM_133437.4:c.65259A>T (TTN) | NP_597681.4:p.Pro21753= | |
| NR_038271.1:n.447-21456T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7483T>A (TTN-AS1) | ||
| XM_011511729.1:c.90975A>T (TTN) | XP_011510031.1:p.Pro30325= | |
| XM_011511730.1:c.64869A>T (TTN) | XP_011510032.1:p.Pro21623= | |
| XM_011511731.1:c.64728A>T (TTN) | XP_011510033.1:p.Pro21576= | |
| XM_017004819.1:c.90771A>T (TTN) | XP_016860308.1:p.Pro30257= | |
| XM_017004820.1:c.86169A>T (TTN) | XP_016860309.1:p.Pro28723= | |
| XM_017004821.1:c.86166A>T (TTN) | XP_016860310.1:p.Pro28722= | |
| XM_017004822.1:c.83208A>T (TTN) | XP_016860311.1:p.Pro27736= | |
| XM_017004823.1:c.64824A>T (TTN) | XP_016860312.1:p.Pro21608= | |
| XM_024453094.1:c.86319A>T (TTN) | XP_024308862.1:p.Pro28773= | |
| XM_024453095.1:c.86316A>T (TTN) | XP_024308863.1:p.Pro28772= | |
| XM_024453096.1:c.85749A>T (TTN) | XP_024308864.1:p.Pro28583= | |
| XM_024453097.1:c.83091A>T (TTN) | XP_024308865.1:p.Pro27697= | |
| XM_024453098.1:c.83010A>T (TTN) | XP_024308866.1:p.Pro27670= | |
| XM_024453099.1:c.64773A>T (TTN) | XP_024308867.1:p.Pro21591= | |
| XM_024453100.1:c.54627A>T (TTN) | XP_024308868.1:p.Pro18209= |