Linked Data
ClinVar Variation Id:
47691
ClinVar RCV Id:
RCV000040960
RCV000206429
RCV000245989
RCV000287653
RCV000291335
RCV000344968
RCV000348634
RCV000397031
RCV000768821
RCV001529386
dbSNP Id:
rs55806007
ExAC:
2:179395874 C / T
gnomAD v2:
2-179395874-C-T
gnomAD v3:
2-178531147-C-T
gnomAD v4:
2-178531147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531147C>T , CM000664.2:g.178531147C>T | GRCh38 |
| NC_000002.11:g.179395874C>T , CM000664.1:g.179395874C>T | GRCh37 |
| NC_000002.10:g.179104120C>T | NCBI36 |
| NG_011618.3:g.304656G>A , LRG_391:g.304656G>A | |
| NG_051363.1:g.13321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97764G>A (TTN) | ENSP00000343764.6:p.Pro32588= | |
| ENST00000342175.11:c.78849G>A (TTN) | ENSP00000340554.6:p.Pro26283= | |
| ENST00000359218.10:c.78648G>A (TTN) | ENSP00000352154.5:p.Pro26216= | |
| ENST00000342175.10:c.78849G>A (TTN) | ENSP00000340554.6:p.Pro26283= | |
| ENST00000342992.10:c.97764G>A (TTN) | ENSP00000343764.6:p.Pro32588= | |
| ENST00000359218.9:c.78648G>A (TTN) | ENSP00000352154.5:p.Pro26216= | |
| ENST00000460472.6:c.78273G>A (TTN) | ENSP00000434586.1:p.Pro26091= | |
| ENST00000589042.5:c.105468G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro35156= | |
| ENST00000591111.5:c.100545G>A (TTN) | ENSP00000465570.1:p.Pro33515= | |
| ENST00000615779.4:c.100545G>A (TTN) | ENSP00000483597.1:p.Pro33515= | |
| NM_001256850.1:c.100545G>A (TTN) | NP_001243779.1:p.Pro33515= | |
| NM_001267550.2:c.105468G>A (TTN) MANE Select | NP_001254479.2:p.Pro35156= | |
| NM_003319.4:c.78273G>A (TTN) | NP_003310.4:p.Pro26091= | |
| NM_133378.4:c.97764G>A (TTN) | NP_596869.4:p.Pro32588= | |
| NM_133432.3:c.78648G>A (TTN) | NP_597676.3:p.Pro26216= | |
| NM_133437.4:c.78849G>A (TTN) | NP_597681.4:p.Pro26283= | |
| NR_038271.1:n.446+7511C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4585C>T (TTN-AS1) | ||
| XM_011511729.1:c.104565G>A (TTN) | XP_011510031.1:p.Pro34855= | |
| XM_011511730.1:c.78459G>A (TTN) | XP_011510032.1:p.Pro26153= | |
| XM_011511731.1:c.78318G>A (TTN) | XP_011510033.1:p.Pro26106= | |
| XM_017004819.1:c.104361G>A (TTN) | XP_016860308.1:p.Pro34787= | |
| XM_017004820.1:c.99759G>A (TTN) | XP_016860309.1:p.Pro33253= | |
| XM_017004821.1:c.99756G>A (TTN) | XP_016860310.1:p.Pro33252= | |
| XM_017004822.1:c.96798G>A (TTN) | XP_016860311.1:p.Pro32266= | |
| XM_017004823.1:c.78414G>A (TTN) | XP_016860312.1:p.Pro26138= | |
| XM_024453094.1:c.99909G>A (TTN) | XP_024308862.1:p.Pro33303= | |
| XM_024453095.1:c.99906G>A (TTN) | XP_024308863.1:p.Pro33302= | |
| XM_024453096.1:c.99339G>A (TTN) | XP_024308864.1:p.Pro33113= | |
| XM_024453097.1:c.96681G>A (TTN) | XP_024308865.1:p.Pro32227= | |
| XM_024453098.1:c.96600G>A (TTN) | XP_024308866.1:p.Pro32200= | |
| XM_024453099.1:c.78363G>A (TTN) | XP_024308867.1:p.Pro26121= | |
| XM_024453100.1:c.68217G>A (TTN) | XP_024308868.1:p.Pro22739= |