Linked Data
ClinVar Variation Id:
191943
dbSNP Id:
rs200585270
ExAC:
2:179468674 A / G
gnomAD v2:
2-179468674-A-G
gnomAD v3:
2-178603947-A-G
gnomAD v4:
2-178603947-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178603947A>G , CM000664.2:g.178603947A>G | GRCh38 |
| NC_000002.11:g.179468674A>G , CM000664.1:g.179468674A>G | GRCh37 |
| NC_000002.10:g.179176919A>G | NCBI36 |
| NG_011618.3:g.231856T>C , LRG_391:g.231856T>C | |
| NG_051363.1:g.86121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47036T>C (TTN) | ENSP00000343764.6:p.Met15679Thr | |
| ENST00000342175.11:c.28121T>C (TTN) | ENSP00000340554.6:p.Met9374Thr | |
| ENST00000359218.10:c.27920T>C (TTN) | ENSP00000352154.5:p.Met9307Thr | |
| ENST00000342175.10:c.28121T>C (TTN) | ENSP00000340554.6:p.Met9374Thr | |
| ENST00000342992.10:c.47036T>C (TTN) | ENSP00000343764.6:p.Met15679Thr | |
| ENST00000359218.9:c.27920T>C (TTN) | ENSP00000352154.5:p.Met9307Thr | |
| ENST00000460472.6:c.27545T>C (TTN) | ENSP00000434586.1:p.Met9182Thr | |
| ENST00000589042.5:c.54740T>C (TTN) MANE Select | ENSP00000467141.1:p.Met18247Thr | |
| ENST00000591111.5:c.49817T>C (TTN) | ENSP00000465570.1:p.Met16606Thr | |
| ENST00000615779.4:c.49817T>C (TTN) | ENSP00000483597.1:p.Met16606Thr | |
| NM_001256850.1:c.49817T>C (TTN) | NP_001243779.1:p.Met16606Thr | |
| NM_001267550.2:c.54740T>C (TTN) MANE Select | NP_001254479.2:p.Met18247Thr | |
| NM_003319.4:c.27545T>C (TTN) | NP_003310.4:p.Met9182Thr | |
| NM_133378.4:c.47036T>C (TTN) | NP_596869.4:p.Met15679Thr | |
| NM_133432.3:c.27920T>C (TTN) | NP_597676.3:p.Met9307Thr | |
| NM_133437.4:c.28121T>C (TTN) | NP_597681.4:p.Met9374Thr | |
| NR_038271.1:n.683-4220A>G (TTN-AS1) | ||
| NR_038272.1:n.3918-784A>G (TTN-AS1) | ||
| XM_011511729.1:c.53837T>C (TTN) | XP_011510031.1:p.Met17946Thr | |
| XM_011511730.1:c.27731T>C (TTN) | XP_011510032.1:p.Met9244Thr | |
| XM_011511731.1:c.27590T>C (TTN) | XP_011510033.1:p.Met9197Thr | |
| XM_017004819.1:c.53633T>C (TTN) | XP_016860308.1:p.Met17878Thr | |
| XM_017004820.1:c.49031T>C (TTN) | XP_016860309.1:p.Met16344Thr | |
| XM_017004821.1:c.49028T>C (TTN) | XP_016860310.1:p.Met16343Thr | |
| XM_017004822.1:c.46070T>C (TTN) | XP_016860311.1:p.Met15357Thr | |
| XM_017004823.1:c.27686T>C (TTN) | XP_016860312.1:p.Met9229Thr | |
| XM_024453094.1:c.49181T>C (TTN) | XP_024308862.1:p.Met16394Thr | |
| XM_024453095.1:c.49178T>C (TTN) | XP_024308863.1:p.Met16393Thr | |
| XM_024453096.1:c.48611T>C (TTN) | XP_024308864.1:p.Met16204Thr | |
| XM_024453097.1:c.45953T>C (TTN) | XP_024308865.1:p.Met15318Thr | |
| XM_024453098.1:c.45872T>C (TTN) | XP_024308866.1:p.Met15291Thr | |
| XM_024453099.1:c.27635T>C (TTN) | XP_024308867.1:p.Met9212Thr | |
| XM_024453100.1:c.17489T>C (TTN) | XP_024308868.1:p.Met5830Thr |