Linked Data
ClinVar Variation Id:
47435
dbSNP Id:
rs397517727
ExAC:
2:179426411 A / G
gnomAD v2:
2-179426411-A-G
gnomAD v3:
2-178561684-A-G
gnomAD v4:
2-178561684-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561684A>G , CM000664.2:g.178561684A>G | GRCh38 |
| NC_000002.11:g.179426411A>G , CM000664.1:g.179426411A>G | GRCh37 |
| NC_000002.10:g.179134657A>G | NCBI36 |
| NG_011618.3:g.274119T>C , LRG_391:g.274119T>C | |
| NG_051363.1:g.43858A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76744T>C (TTN) | ENSP00000343764.6:p.Tyr25582His | |
| ENST00000342175.11:c.57829T>C (TTN) | ENSP00000340554.6:p.Tyr19277His | |
| ENST00000359218.10:c.57628T>C (TTN) | ENSP00000352154.5:p.Tyr19210His | |
| ENST00000342175.10:c.57829T>C (TTN) | ENSP00000340554.6:p.Tyr19277His | |
| ENST00000342992.10:c.76744T>C (TTN) | ENSP00000343764.6:p.Tyr25582His | |
| ENST00000359218.9:c.57628T>C (TTN) | ENSP00000352154.5:p.Tyr19210His | |
| ENST00000460472.6:c.57253T>C (TTN) | ENSP00000434586.1:p.Tyr19085His | |
| ENST00000589042.5:c.84448T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr28150His | |
| ENST00000591111.5:c.79525T>C (TTN) | ENSP00000465570.1:p.Tyr26509His | |
| ENST00000615779.4:c.79525T>C (TTN) | ENSP00000483597.1:p.Tyr26509His | |
| NM_001256850.1:c.79525T>C (TTN) | NP_001243779.1:p.Tyr26509His | |
| NM_001267550.2:c.84448T>C (TTN) MANE Select | NP_001254479.2:p.Tyr28150His | |
| NM_003319.4:c.57253T>C (TTN) | NP_003310.4:p.Tyr19085His | |
| NM_133378.4:c.76744T>C (TTN) | NP_596869.4:p.Tyr25582His | |
| NM_133432.3:c.57628T>C (TTN) | NP_597676.3:p.Tyr19210His | |
| NM_133437.4:c.57829T>C (TTN) | NP_597681.4:p.Tyr19277His | |
| NR_038271.1:n.447-9616A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+19323A>G (TTN-AS1) | ||
| XM_011511729.1:c.83545T>C (TTN) | XP_011510031.1:p.Tyr27849His | |
| XM_011511730.1:c.57439T>C (TTN) | XP_011510032.1:p.Tyr19147His | |
| XM_011511731.1:c.57298T>C (TTN) | XP_011510033.1:p.Tyr19100His | |
| XM_017004819.1:c.83341T>C (TTN) | XP_016860308.1:p.Tyr27781His | |
| XM_017004820.1:c.78739T>C (TTN) | XP_016860309.1:p.Tyr26247His | |
| XM_017004821.1:c.78736T>C (TTN) | XP_016860310.1:p.Tyr26246His | |
| XM_017004822.1:c.75778T>C (TTN) | XP_016860311.1:p.Tyr25260His | |
| XM_017004823.1:c.57394T>C (TTN) | XP_016860312.1:p.Tyr19132His | |
| XM_024453094.1:c.78889T>C (TTN) | XP_024308862.1:p.Tyr26297His | |
| XM_024453095.1:c.78886T>C (TTN) | XP_024308863.1:p.Tyr26296His | |
| XM_024453096.1:c.78319T>C (TTN) | XP_024308864.1:p.Tyr26107His | |
| XM_024453097.1:c.75661T>C (TTN) | XP_024308865.1:p.Tyr25221His | |
| XM_024453098.1:c.75580T>C (TTN) | XP_024308866.1:p.Tyr25194His | |
| XM_024453099.1:c.57343T>C (TTN) | XP_024308867.1:p.Tyr19115His | |
| XM_024453100.1:c.47197T>C (TTN) | XP_024308868.1:p.Tyr15733His |