Linked Data
ClinVar Variation Id:
202275
dbSNP Id:
rs750472100
ExAC:
2:179465822 C / T
gnomAD v2:
2-179465822-C-T
gnomAD v3:
2-178601095-C-T
gnomAD v4:
2-178601095-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601095C>T , CM000664.2:g.178601095C>T | GRCh38 |
| NC_000002.11:g.179465822C>T , CM000664.1:g.179465822C>T | GRCh37 |
| NC_000002.10:g.179174067C>T | NCBI36 |
| NG_011618.3:g.234708G>A , LRG_391:g.234708G>A | |
| NG_051363.1:g.83269C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48105G>A (TTN) | ENSP00000343764.6:p.Pro16035= | |
| ENST00000342175.11:c.29190G>A (TTN) | ENSP00000340554.6:p.Pro9730= | |
| ENST00000359218.10:c.28989G>A (TTN) | ENSP00000352154.5:p.Pro9663= | |
| ENST00000342175.10:c.29190G>A (TTN) | ENSP00000340554.6:p.Pro9730= | |
| ENST00000342992.10:c.48105G>A (TTN) | ENSP00000343764.6:p.Pro16035= | |
| ENST00000359218.9:c.28989G>A (TTN) | ENSP00000352154.5:p.Pro9663= | |
| ENST00000460472.6:c.28614G>A (TTN) | ENSP00000434586.1:p.Pro9538= | |
| ENST00000589042.5:c.55809G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro18603= | |
| ENST00000591111.5:c.50886G>A (TTN) | ENSP00000465570.1:p.Pro16962= | |
| ENST00000615779.4:c.50886G>A (TTN) | ENSP00000483597.1:p.Pro16962= | |
| NM_001256850.1:c.50886G>A (TTN) | NP_001243779.1:p.Pro16962= | |
| NM_001267550.2:c.55809G>A (TTN) MANE Select | NP_001254479.2:p.Pro18603= | |
| NM_003319.4:c.28614G>A (TTN) | NP_003310.4:p.Pro9538= | |
| NM_133378.4:c.48105G>A (TTN) | NP_596869.4:p.Pro16035= | |
| NM_133432.3:c.28989G>A (TTN) | NP_597676.3:p.Pro9663= | |
| NM_133437.4:c.29190G>A (TTN) | NP_597681.4:p.Pro9730= | |
| NR_038271.1:n.682+3414C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+428C>T (TTN-AS1) | ||
| XM_011511729.1:c.54906G>A (TTN) | XP_011510031.1:p.Pro18302= | |
| XM_011511730.1:c.28800G>A (TTN) | XP_011510032.1:p.Pro9600= | |
| XM_011511731.1:c.28659G>A (TTN) | XP_011510033.1:p.Pro9553= | |
| XM_017004819.1:c.54702G>A (TTN) | XP_016860308.1:p.Pro18234= | |
| XM_017004820.1:c.50100G>A (TTN) | XP_016860309.1:p.Pro16700= | |
| XM_017004821.1:c.50097G>A (TTN) | XP_016860310.1:p.Pro16699= | |
| XM_017004822.1:c.47139G>A (TTN) | XP_016860311.1:p.Pro15713= | |
| XM_017004823.1:c.28755G>A (TTN) | XP_016860312.1:p.Pro9585= | |
| XM_024453094.1:c.50250G>A (TTN) | XP_024308862.1:p.Pro16750= | |
| XM_024453095.1:c.50247G>A (TTN) | XP_024308863.1:p.Pro16749= | |
| XM_024453096.1:c.49680G>A (TTN) | XP_024308864.1:p.Pro16560= | |
| XM_024453097.1:c.47022G>A (TTN) | XP_024308865.1:p.Pro15674= | |
| XM_024453098.1:c.46941G>A (TTN) | XP_024308866.1:p.Pro15647= | |
| XM_024453099.1:c.28704G>A (TTN) | XP_024308867.1:p.Pro9568= | |
| XM_024453100.1:c.18558G>A (TTN) | XP_024308868.1:p.Pro6186= |