Linked Data
ClinVar Variation Id:
202391
ClinVar RCV Id:
RCV000184239
RCV000278169
RCV000350933
RCV000331273
RCV000385626
RCV000405475
RCV000546209
RCV000295999
RCV001249326
RCV003165414
dbSNP Id:
rs754717390
ExAC:
2:179466380 C / G
gnomAD v2:
2-179466380-C-G
gnomAD v3:
2-178601653-C-G
gnomAD v4:
2-178601653-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601653C>G , CM000664.2:g.178601653C>G | GRCh38 |
| NC_000002.11:g.179466380C>G , CM000664.1:g.179466380C>G | GRCh37 |
| NC_000002.10:g.179174625C>G | NCBI36 |
| NG_011618.3:g.234150G>C , LRG_391:g.234150G>C | |
| NG_051363.1:g.83827C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47728+5G>C (TTN) | ENSP00000343764.6:n.47728+5G>C | |
| ENST00000342175.11:c.28813+5G>C (TTN) | ENSP00000340554.6:n.28813+5G>C | |
| ENST00000359218.10:c.28612+5G>C (TTN) | ENSP00000352154.5:n.28612+5G>C | |
| ENST00000342175.10:c.28813+5G>C (TTN) | ENSP00000340554.6:n.28813+5G>C | |
| ENST00000342992.10:c.47728+5G>C (TTN) | ENSP00000343764.6:n.47728+5G>C | |
| ENST00000359218.9:c.28612+5G>C (TTN) | ENSP00000352154.5:n.28612+5G>C | |
| ENST00000460472.6:c.28237+5G>C (TTN) | ENSP00000434586.1:n.28237+5G>C | |
| ENST00000589042.5:c.55432+5G>C (TTN) MANE Select | ENSP00000467141.1:n.55432+5G>C | |
| ENST00000591111.5:c.50509+5G>C (TTN) | ENSP00000465570.1:n.50509+5G>C | |
| ENST00000615779.4:c.50509+5G>C (TTN) | ENSP00000483597.1:n.50509+5G>C | |
| NM_001256850.1:c.50509+5G>C (TTN) | NP_001243779.1:n.50509+5G>C | |
| NM_001267550.2:c.55432+5G>C (TTN) MANE Select | NP_001254479.2:n.55432+5G>C | |
| NM_003319.4:c.28237+5G>C (TTN) | NP_003310.4:n.28237+5G>C | |
| NM_133378.4:c.47728+5G>C (TTN) | NP_596869.4:n.47728+5G>C | |
| NM_133432.3:c.28612+5G>C (TTN) | NP_597676.3:n.28612+5G>C | |
| NM_133437.4:c.28813+5G>C (TTN) | NP_597681.4:n.28813+5G>C | |
| NR_038271.1:n.682+3972C>G (TTN-AS1) | ||
| NR_038272.1:n.3917+986C>G (TTN-AS1) | ||
| XM_011511729.1:c.54529+5G>C (TTN) | XP_011510031.1:n.54529+5G>C | |
| XM_011511730.1:c.28423+5G>C (TTN) | XP_011510032.1:n.28423+5G>C | |
| XM_011511731.1:c.28282+5G>C (TTN) | XP_011510033.1:n.28282+5G>C | |
| XM_017004819.1:c.54325+5G>C (TTN) | XP_016860308.1:n.54325+5G>C | |
| XM_017004820.1:c.49723+5G>C (TTN) | XP_016860309.1:n.49723+5G>C | |
| XM_017004821.1:c.49720+5G>C (TTN) | XP_016860310.1:n.49720+5G>C | |
| XM_017004822.1:c.46762+5G>C (TTN) | XP_016860311.1:n.46762+5G>C | |
| XM_017004823.1:c.28378+5G>C (TTN) | XP_016860312.1:n.28378+5G>C | |
| XM_024453094.1:c.49873+5G>C (TTN) | XP_024308862.1:n.49873+5G>C | |
| XM_024453095.1:c.49870+5G>C (TTN) | XP_024308863.1:n.49870+5G>C | |
| XM_024453096.1:c.49303+5G>C (TTN) | XP_024308864.1:n.49303+5G>C | |
| XM_024453097.1:c.46645+5G>C (TTN) | XP_024308865.1:n.46645+5G>C | |
| XM_024453098.1:c.46564+5G>C (TTN) | XP_024308866.1:n.46564+5G>C | |
| XM_024453099.1:c.28327+5G>C (TTN) | XP_024308867.1:n.28327+5G>C | |
| XM_024453100.1:c.18181+5G>C (TTN) | XP_024308868.1:n.18181+5G>C |