Linked Data
ClinVar Variation Id:
290706
dbSNP Id:
rs372911542
ExAC:
2:179479403 C / T
gnomAD v2:
2-179479403-C-T
gnomAD v3:
2-178614676-C-T
gnomAD v4:
2-178614676-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614676C>T , CM000664.2:g.178614676C>T | GRCh38 |
| NC_000002.11:g.179479403C>T , CM000664.1:g.179479403C>T | GRCh37 |
| NC_000002.10:g.179187648C>T | NCBI36 |
| NG_011618.3:g.221127G>A , LRG_391:g.221127G>A | |
| NG_051363.1:g.96850C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41134G>A (TTN) | ENSP00000343764.6:p.Ala13712Thr | |
| ENST00000342175.11:c.22219G>A (TTN) | ENSP00000340554.6:p.Ala7407Thr | |
| ENST00000359218.10:c.22018G>A (TTN) | ENSP00000352154.5:p.Ala7340Thr | |
| ENST00000342175.10:c.22219G>A (TTN) | ENSP00000340554.6:p.Ala7407Thr | |
| ENST00000342992.10:c.41134G>A (TTN) | ENSP00000343764.6:p.Ala13712Thr | |
| ENST00000359218.9:c.22018G>A (TTN) | ENSP00000352154.5:p.Ala7340Thr | |
| ENST00000460472.6:c.21643G>A (TTN) | ENSP00000434586.1:p.Ala7215Thr | |
| ENST00000589042.5:c.48838G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala16280Thr | |
| ENST00000591111.5:c.43915G>A (TTN) | ENSP00000465570.1:p.Ala14639Thr | |
| ENST00000615779.4:c.43915G>A (TTN) | ENSP00000483597.1:p.Ala14639Thr | |
| NM_001256850.1:c.43915G>A (TTN) | NP_001243779.1:p.Ala14639Thr | |
| NM_001267550.2:c.48838G>A (TTN) MANE Select | NP_001254479.2:p.Ala16280Thr | |
| NM_003319.4:c.21643G>A (TTN) | NP_003310.4:p.Ala7215Thr | |
| NM_133378.4:c.41134G>A (TTN) | NP_596869.4:p.Ala13712Thr | |
| NM_133432.3:c.22018G>A (TTN) | NP_597676.3:p.Ala7340Thr | |
| NM_133437.4:c.22219G>A (TTN) | NP_597681.4:p.Ala7407Thr | |
| NR_038271.1:n.1424C>T (TTN-AS1) | ||
| XM_011511729.1:c.47935G>A (TTN) | XP_011510031.1:p.Ala15979Thr | |
| XM_011511730.1:c.21829G>A (TTN) | XP_011510032.1:p.Ala7277Thr | |
| XM_011511731.1:c.21688G>A (TTN) | XP_011510033.1:p.Ala7230Thr | |
| XM_017004819.1:c.47731G>A (TTN) | XP_016860308.1:p.Ala15911Thr | |
| XM_017004820.1:c.43129G>A (TTN) | XP_016860309.1:p.Ala14377Thr | |
| XM_017004821.1:c.43126G>A (TTN) | XP_016860310.1:p.Ala14376Thr | |
| XM_017004822.1:c.40168G>A (TTN) | XP_016860311.1:p.Ala13390Thr | |
| XM_017004823.1:c.21784G>A (TTN) | XP_016860312.1:p.Ala7262Thr | |
| XM_024453094.1:c.43279G>A (TTN) | XP_024308862.1:p.Ala14427Thr | |
| XM_024453095.1:c.43276G>A (TTN) | XP_024308863.1:p.Ala14426Thr | |
| XM_024453096.1:c.42709G>A (TTN) | XP_024308864.1:p.Ala14237Thr | |
| XM_024453097.1:c.40051G>A (TTN) | XP_024308865.1:p.Ala13351Thr | |
| XM_024453098.1:c.39970G>A (TTN) | XP_024308866.1:p.Ala13324Thr | |
| XM_024453099.1:c.21733G>A (TTN) | XP_024308867.1:p.Ala7245Thr | |
| XM_024453100.1:c.11587G>A (TTN) | XP_024308868.1:p.Ala3863Thr |