Linked Data
ClinVar Variation Id:
178156
dbSNP Id:
rs200430493
ExAC:
2:179398822 C / T
gnomAD v2:
2-179398822-C-T
gnomAD v3:
2-178534095-C-T
gnomAD v4:
2-178534095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534095C>T , CM000664.2:g.178534095C>T | GRCh38 |
| NC_000002.11:g.179398822C>T , CM000664.1:g.179398822C>T | GRCh37 |
| NC_000002.10:g.179107068C>T | NCBI36 |
| NG_011618.3:g.301708G>A , LRG_391:g.301708G>A | |
| NG_051363.1:g.16269C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94816G>A (TTN) | ENSP00000343764.6:p.Val31606Ile | |
| ENST00000342175.11:c.75901G>A (TTN) | ENSP00000340554.6:p.Val25301Ile | |
| ENST00000359218.10:c.75700G>A (TTN) | ENSP00000352154.5:p.Val25234Ile | |
| ENST00000342175.10:c.75901G>A (TTN) | ENSP00000340554.6:p.Val25301Ile | |
| ENST00000342992.10:c.94816G>A (TTN) | ENSP00000343764.6:p.Val31606Ile | |
| ENST00000359218.9:c.75700G>A (TTN) | ENSP00000352154.5:p.Val25234Ile | |
| ENST00000460472.6:c.75325G>A (TTN) | ENSP00000434586.1:p.Val25109Ile | |
| ENST00000589042.5:c.102520G>A (TTN) MANE Select | ENSP00000467141.1:p.Val34174Ile | |
| ENST00000591111.5:c.97597G>A (TTN) | ENSP00000465570.1:p.Val32533Ile | |
| ENST00000615779.4:c.97597G>A (TTN) | ENSP00000483597.1:p.Val32533Ile | |
| NM_001256850.1:c.97597G>A (TTN) | NP_001243779.1:p.Val32533Ile | |
| NM_001267550.2:c.102520G>A (TTN) MANE Select | NP_001254479.2:p.Val34174Ile | |
| NM_003319.4:c.75325G>A (TTN) | NP_003310.4:p.Val25109Ile | |
| NM_133378.4:c.94816G>A (TTN) | NP_596869.4:p.Val31606Ile | |
| NM_133432.3:c.75700G>A (TTN) | NP_597676.3:p.Val25234Ile | |
| NM_133437.4:c.75901G>A (TTN) | NP_597681.4:p.Val25301Ile | |
| NR_038271.1:n.446+10459C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1637C>T (TTN-AS1) | ||
| XM_011511729.1:c.101617G>A (TTN) | XP_011510031.1:p.Val33873Ile | |
| XM_011511730.1:c.75511G>A (TTN) | XP_011510032.1:p.Val25171Ile | |
| XM_011511731.1:c.75370G>A (TTN) | XP_011510033.1:p.Val25124Ile | |
| XM_017004819.1:c.101413G>A (TTN) | XP_016860308.1:p.Val33805Ile | |
| XM_017004820.1:c.96811G>A (TTN) | XP_016860309.1:p.Val32271Ile | |
| XM_017004821.1:c.96808G>A (TTN) | XP_016860310.1:p.Val32270Ile | |
| XM_017004822.1:c.93850G>A (TTN) | XP_016860311.1:p.Val31284Ile | |
| XM_017004823.1:c.75466G>A (TTN) | XP_016860312.1:p.Val25156Ile | |
| XM_024453094.1:c.96961G>A (TTN) | XP_024308862.1:p.Val32321Ile | |
| XM_024453095.1:c.96958G>A (TTN) | XP_024308863.1:p.Val32320Ile | |
| XM_024453096.1:c.96391G>A (TTN) | XP_024308864.1:p.Val32131Ile | |
| XM_024453097.1:c.93733G>A (TTN) | XP_024308865.1:p.Val31245Ile | |
| XM_024453098.1:c.93652G>A (TTN) | XP_024308866.1:p.Val31218Ile | |
| XM_024453099.1:c.75415G>A (TTN) | XP_024308867.1:p.Val25139Ile | |
| XM_024453100.1:c.65269G>A (TTN) | XP_024308868.1:p.Val21757Ile |