Linked Data
ClinVar Variation Id:
448806
dbSNP Id:
rs370091658
gnomAD v2:
2-179458929-C-T
gnomAD v3:
2-178594202-C-T
gnomAD v4:
2-178594202-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594202C>T , CM000664.2:g.178594202C>T | GRCh38 |
| NC_000002.11:g.179458929C>T , CM000664.1:g.179458929C>T | GRCh37 |
| NC_000002.10:g.179167175C>T | NCBI36 |
| NG_011618.3:g.241601G>A , LRG_391:g.241601G>A | |
| NG_051363.1:g.76376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50487G>A (TTN) | ENSP00000343764.6:p.Thr16829= | |
| ENST00000342175.11:c.31572G>A (TTN) | ENSP00000340554.6:p.Thr10524= | |
| ENST00000359218.10:c.31371G>A (TTN) | ENSP00000352154.5:p.Thr10457= | |
| ENST00000342175.10:c.31572G>A (TTN) | ENSP00000340554.6:p.Thr10524= | |
| ENST00000342992.10:c.50487G>A (TTN) | ENSP00000343764.6:p.Thr16829= | |
| ENST00000359218.9:c.31371G>A (TTN) | ENSP00000352154.5:p.Thr10457= | |
| ENST00000460472.6:c.30996G>A (TTN) | ENSP00000434586.1:p.Thr10332= | |
| ENST00000589042.5:c.58191G>A (TTN) MANE Select | ENSP00000467141.1:p.Thr19397= | |
| ENST00000591111.5:c.53268G>A (TTN) | ENSP00000465570.1:p.Thr17756= | |
| ENST00000615779.4:c.53268G>A (TTN) | ENSP00000483597.1:p.Thr17756= | |
| NM_001256850.1:c.53268G>A (TTN) | NP_001243779.1:p.Thr17756= | |
| NM_001267550.2:c.58191G>A (TTN) MANE Select | NP_001254479.2:p.Thr19397= | |
| NM_003319.4:c.30996G>A (TTN) | NP_003310.4:p.Thr10332= | |
| NM_133378.4:c.50487G>A (TTN) | NP_596869.4:p.Thr16829= | |
| NM_133432.3:c.31371G>A (TTN) | NP_597676.3:p.Thr10457= | |
| NM_133437.4:c.31572G>A (TTN) | NP_597681.4:p.Thr10524= | |
| NR_038271.1:n.597-3394C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+2888C>T (TTN-AS1) | ||
| XM_011511729.1:c.57288G>A (TTN) | XP_011510031.1:p.Thr19096= | |
| XM_011511730.1:c.31182G>A (TTN) | XP_011510032.1:p.Thr10394= | |
| XM_011511731.1:c.31041G>A (TTN) | XP_011510033.1:p.Thr10347= | |
| XM_017004819.1:c.57084G>A (TTN) | XP_016860308.1:p.Thr19028= | |
| XM_017004820.1:c.52482G>A (TTN) | XP_016860309.1:p.Thr17494= | |
| XM_017004821.1:c.52479G>A (TTN) | XP_016860310.1:p.Thr17493= | |
| XM_017004822.1:c.49521G>A (TTN) | XP_016860311.1:p.Thr16507= | |
| XM_017004823.1:c.31137G>A (TTN) | XP_016860312.1:p.Thr10379= | |
| XM_024453094.1:c.52632G>A (TTN) | XP_024308862.1:p.Thr17544= | |
| XM_024453095.1:c.52629G>A (TTN) | XP_024308863.1:p.Thr17543= | |
| XM_024453096.1:c.52062G>A (TTN) | XP_024308864.1:p.Thr17354= | |
| XM_024453097.1:c.49404G>A (TTN) | XP_024308865.1:p.Thr16468= | |
| XM_024453098.1:c.49323G>A (TTN) | XP_024308866.1:p.Thr16441= | |
| XM_024453099.1:c.31086G>A (TTN) | XP_024308867.1:p.Thr10362= | |
| XM_024453100.1:c.20940G>A (TTN) | XP_024308868.1:p.Thr6980= |