Linked Data
ClinVar Variation Id:
404736
dbSNP Id:
rs773271774
ExAC:
2:179477647 C / A
gnomAD v2:
2-179477647-C-A
gnomAD v3:
2-178612920-C-A
gnomAD v4:
2-178612920-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612920C>A , CM000664.2:g.178612920C>A | GRCh38 |
| NC_000002.11:g.179477647C>A , CM000664.1:g.179477647C>A | GRCh37 |
| NC_000002.10:g.179185892C>A | NCBI36 |
| NG_011618.3:g.222883G>T , LRG_391:g.222883G>T | |
| NG_051363.1:g.95094C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42097G>T (TTN) | ENSP00000343764.6:p.Val14033Leu | |
| ENST00000342175.11:c.23182G>T (TTN) | ENSP00000340554.6:p.Val7728Leu | |
| ENST00000359218.10:c.22981G>T (TTN) | ENSP00000352154.5:p.Val7661Leu | |
| ENST00000342175.10:c.23182G>T (TTN) | ENSP00000340554.6:p.Val7728Leu | |
| ENST00000342992.10:c.42097G>T (TTN) | ENSP00000343764.6:p.Val14033Leu | |
| ENST00000359218.9:c.22981G>T (TTN) | ENSP00000352154.5:p.Val7661Leu | |
| ENST00000460472.6:c.22606G>T (TTN) | ENSP00000434586.1:p.Val7536Leu | |
| ENST00000589042.5:c.49801G>T (TTN) MANE Select | ENSP00000467141.1:p.Val16601Leu | |
| ENST00000591111.5:c.44878G>T (TTN) | ENSP00000465570.1:p.Val14960Leu | |
| ENST00000615779.4:c.44878G>T (TTN) | ENSP00000483597.1:p.Val14960Leu | |
| NM_001256850.1:c.44878G>T (TTN) | NP_001243779.1:p.Val14960Leu | |
| NM_001267550.2:c.49801G>T (TTN) MANE Select | NP_001254479.2:p.Val16601Leu | |
| NM_003319.4:c.22606G>T (TTN) | NP_003310.4:p.Val7536Leu | |
| NM_133378.4:c.42097G>T (TTN) | NP_596869.4:p.Val14033Leu | |
| NM_133432.3:c.22981G>T (TTN) | NP_597676.3:p.Val7661Leu | |
| NM_133437.4:c.23182G>T (TTN) | NP_597681.4:p.Val7728Leu | |
| NR_038271.1:n.783-1115C>A (TTN-AS1) | ||
| XM_011511729.1:c.48898G>T (TTN) | XP_011510031.1:p.Val16300Leu | |
| XM_011511730.1:c.22792G>T (TTN) | XP_011510032.1:p.Val7598Leu | |
| XM_011511731.1:c.22651G>T (TTN) | XP_011510033.1:p.Val7551Leu | |
| XM_017004819.1:c.48694G>T (TTN) | XP_016860308.1:p.Val16232Leu | |
| XM_017004820.1:c.44092G>T (TTN) | XP_016860309.1:p.Val14698Leu | |
| XM_017004821.1:c.44089G>T (TTN) | XP_016860310.1:p.Val14697Leu | |
| XM_017004822.1:c.41131G>T (TTN) | XP_016860311.1:p.Val13711Leu | |
| XM_017004823.1:c.22747G>T (TTN) | XP_016860312.1:p.Val7583Leu | |
| XM_024453094.1:c.44242G>T (TTN) | XP_024308862.1:p.Val14748Leu | |
| XM_024453095.1:c.44239G>T (TTN) | XP_024308863.1:p.Val14747Leu | |
| XM_024453096.1:c.43672G>T (TTN) | XP_024308864.1:p.Val14558Leu | |
| XM_024453097.1:c.41014G>T (TTN) | XP_024308865.1:p.Val13672Leu | |
| XM_024453098.1:c.40933G>T (TTN) | XP_024308866.1:p.Val13645Leu | |
| XM_024453099.1:c.22696G>T (TTN) | XP_024308867.1:p.Val7566Leu | |
| XM_024453100.1:c.12550G>T (TTN) | XP_024308868.1:p.Val4184Leu |