Linked Data
ClinVar Variation Id:
535472
dbSNP Id:
rs552058608
ExAC:
2:179396251 C / T
gnomAD v2:
2-179396251-C-T
gnomAD v3:
2-178531524-C-T
gnomAD v4:
2-178531524-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531524C>T , CM000664.2:g.178531524C>T | GRCh38 |
| NC_000002.11:g.179396251C>T , CM000664.1:g.179396251C>T | GRCh37 |
| NC_000002.10:g.179104497C>T | NCBI36 |
| NG_011618.3:g.304279G>A , LRG_391:g.304279G>A | |
| NG_051363.1:g.13698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97387G>A (TTN) | ENSP00000343764.6:p.Val32463Met | |
| ENST00000342175.11:c.78472G>A (TTN) | ENSP00000340554.6:p.Val26158Met | |
| ENST00000359218.10:c.78271G>A (TTN) | ENSP00000352154.5:p.Val26091Met | |
| ENST00000342175.10:c.78472G>A (TTN) | ENSP00000340554.6:p.Val26158Met | |
| ENST00000342992.10:c.97387G>A (TTN) | ENSP00000343764.6:p.Val32463Met | |
| ENST00000359218.9:c.78271G>A (TTN) | ENSP00000352154.5:p.Val26091Met | |
| ENST00000460472.6:c.77896G>A (TTN) | ENSP00000434586.1:p.Val25966Met | |
| ENST00000589042.5:c.105091G>A (TTN) MANE Select | ENSP00000467141.1:p.Val35031Met | |
| ENST00000591111.5:c.100168G>A (TTN) | ENSP00000465570.1:p.Val33390Met | |
| ENST00000615779.4:c.100168G>A (TTN) | ENSP00000483597.1:p.Val33390Met | |
| NM_001256850.1:c.100168G>A (TTN) | NP_001243779.1:p.Val33390Met | |
| NM_001267550.2:c.105091G>A (TTN) MANE Select | NP_001254479.2:p.Val35031Met | |
| NM_003319.4:c.77896G>A (TTN) | NP_003310.4:p.Val25966Met | |
| NM_133378.4:c.97387G>A (TTN) | NP_596869.4:p.Val32463Met | |
| NM_133432.3:c.78271G>A (TTN) | NP_597676.3:p.Val26091Met | |
| NM_133437.4:c.78472G>A (TTN) | NP_597681.4:p.Val26158Met | |
| NR_038271.1:n.446+7888C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4208C>T (TTN-AS1) | ||
| XM_011511729.1:c.104188G>A (TTN) | XP_011510031.1:p.Val34730Met | |
| XM_011511730.1:c.78082G>A (TTN) | XP_011510032.1:p.Val26028Met | |
| XM_011511731.1:c.77941G>A (TTN) | XP_011510033.1:p.Val25981Met | |
| XM_017004819.1:c.103984G>A (TTN) | XP_016860308.1:p.Val34662Met | |
| XM_017004820.1:c.99382G>A (TTN) | XP_016860309.1:p.Val33128Met | |
| XM_017004821.1:c.99379G>A (TTN) | XP_016860310.1:p.Val33127Met | |
| XM_017004822.1:c.96421G>A (TTN) | XP_016860311.1:p.Val32141Met | |
| XM_017004823.1:c.78037G>A (TTN) | XP_016860312.1:p.Val26013Met | |
| XM_024453094.1:c.99532G>A (TTN) | XP_024308862.1:p.Val33178Met | |
| XM_024453095.1:c.99529G>A (TTN) | XP_024308863.1:p.Val33177Met | |
| XM_024453096.1:c.98962G>A (TTN) | XP_024308864.1:p.Val32988Met | |
| XM_024453097.1:c.96304G>A (TTN) | XP_024308865.1:p.Val32102Met | |
| XM_024453098.1:c.96223G>A (TTN) | XP_024308866.1:p.Val32075Met | |
| XM_024453099.1:c.77986G>A (TTN) | XP_024308867.1:p.Val25996Met | |
| XM_024453100.1:c.67840G>A (TTN) | XP_024308868.1:p.Val22614Met |