Linked Data
ClinVar Variation Id:
497346
dbSNP Id:
rs769822399
ExAC:
2:179465843 C / T
gnomAD v2:
2-179465843-C-T
gnomAD v3:
2-178601116-C-T
gnomAD v4:
2-178601116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601116C>T , CM000664.2:g.178601116C>T | GRCh38 |
| NC_000002.11:g.179465843C>T , CM000664.1:g.179465843C>T | GRCh37 |
| NC_000002.10:g.179174088C>T | NCBI36 |
| NG_011618.3:g.234687G>A , LRG_391:g.234687G>A | |
| NG_051363.1:g.83290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48084G>A (TTN) | ENSP00000343764.6:p.Val16028= | |
| ENST00000342175.11:c.29169G>A (TTN) | ENSP00000340554.6:p.Val9723= | |
| ENST00000359218.10:c.28968G>A (TTN) | ENSP00000352154.5:p.Val9656= | |
| ENST00000342175.10:c.29169G>A (TTN) | ENSP00000340554.6:p.Val9723= | |
| ENST00000342992.10:c.48084G>A (TTN) | ENSP00000343764.6:p.Val16028= | |
| ENST00000359218.9:c.28968G>A (TTN) | ENSP00000352154.5:p.Val9656= | |
| ENST00000460472.6:c.28593G>A (TTN) | ENSP00000434586.1:p.Val9531= | |
| ENST00000589042.5:c.55788G>A (TTN) MANE Select | ENSP00000467141.1:p.Val18596= | |
| ENST00000591111.5:c.50865G>A (TTN) | ENSP00000465570.1:p.Val16955= | |
| ENST00000615779.4:c.50865G>A (TTN) | ENSP00000483597.1:p.Val16955= | |
| NM_001256850.1:c.50865G>A (TTN) | NP_001243779.1:p.Val16955= | |
| NM_001267550.2:c.55788G>A (TTN) MANE Select | NP_001254479.2:p.Val18596= | |
| NM_003319.4:c.28593G>A (TTN) | NP_003310.4:p.Val9531= | |
| NM_133378.4:c.48084G>A (TTN) | NP_596869.4:p.Val16028= | |
| NM_133432.3:c.28968G>A (TTN) | NP_597676.3:p.Val9656= | |
| NM_133437.4:c.29169G>A (TTN) | NP_597681.4:p.Val9723= | |
| NR_038271.1:n.682+3435C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+449C>T (TTN-AS1) | ||
| XM_011511729.1:c.54885G>A (TTN) | XP_011510031.1:p.Val18295= | |
| XM_011511730.1:c.28779G>A (TTN) | XP_011510032.1:p.Val9593= | |
| XM_011511731.1:c.28638G>A (TTN) | XP_011510033.1:p.Val9546= | |
| XM_017004819.1:c.54681G>A (TTN) | XP_016860308.1:p.Val18227= | |
| XM_017004820.1:c.50079G>A (TTN) | XP_016860309.1:p.Val16693= | |
| XM_017004821.1:c.50076G>A (TTN) | XP_016860310.1:p.Val16692= | |
| XM_017004822.1:c.47118G>A (TTN) | XP_016860311.1:p.Val15706= | |
| XM_017004823.1:c.28734G>A (TTN) | XP_016860312.1:p.Val9578= | |
| XM_024453094.1:c.50229G>A (TTN) | XP_024308862.1:p.Val16743= | |
| XM_024453095.1:c.50226G>A (TTN) | XP_024308863.1:p.Val16742= | |
| XM_024453096.1:c.49659G>A (TTN) | XP_024308864.1:p.Val16553= | |
| XM_024453097.1:c.47001G>A (TTN) | XP_024308865.1:p.Val15667= | |
| XM_024453098.1:c.46920G>A (TTN) | XP_024308866.1:p.Val15640= | |
| XM_024453099.1:c.28683G>A (TTN) | XP_024308867.1:p.Val9561= | |
| XM_024453100.1:c.18537G>A (TTN) | XP_024308868.1:p.Val6179= |