Linked Data
ClinVar Variation Id:
165912
ClinVar RCV Id:
RCV000152263
RCV000252401
RCV000725199
RCV001083795
RCV001130434
RCV001130433
RCV001798479
RCV001130430
RCV001130431
RCV001130432
RCV004544369
dbSNP Id:
rs184863287
ExAC:
2:179453509 A / G
gnomAD v2:
2-179453509-A-G
gnomAD v3:
2-178588782-A-G
gnomAD v4:
2-178588782-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588782A>G , CM000664.2:g.178588782A>G | GRCh38 |
| NC_000002.11:g.179453509A>G , CM000664.1:g.179453509A>G | GRCh37 |
| NC_000002.10:g.179161755A>G | NCBI36 |
| NG_011618.3:g.247021T>C , LRG_391:g.247021T>C | |
| NG_051363.1:g.70956A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55239T>C (TTN) | ENSP00000343764.6:p.Thr18413= | |
| ENST00000342175.11:c.36324T>C (TTN) | ENSP00000340554.6:p.Thr12108= | |
| ENST00000359218.10:c.36123T>C (TTN) | ENSP00000352154.5:p.Thr12041= | |
| ENST00000342175.10:c.36324T>C (TTN) | ENSP00000340554.6:p.Thr12108= | |
| ENST00000342992.10:c.55239T>C (TTN) | ENSP00000343764.6:p.Thr18413= | |
| ENST00000359218.9:c.36123T>C (TTN) | ENSP00000352154.5:p.Thr12041= | |
| ENST00000460472.6:c.35748T>C (TTN) | ENSP00000434586.1:p.Thr11916= | |
| ENST00000589042.5:c.62943T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr20981= | |
| ENST00000591111.5:c.58020T>C (TTN) | ENSP00000465570.1:p.Thr19340= | |
| ENST00000615779.4:c.58020T>C (TTN) | ENSP00000483597.1:p.Thr19340= | |
| NM_001256850.1:c.58020T>C (TTN) | NP_001243779.1:p.Thr19340= | |
| NM_001267550.2:c.62943T>C (TTN) MANE Select | NP_001254479.2:p.Thr20981= | |
| NM_003319.4:c.35748T>C (TTN) | NP_003310.4:p.Thr11916= | |
| NM_133378.4:c.55239T>C (TTN) | NP_596869.4:p.Thr18413= | |
| NM_133432.3:c.36123T>C (TTN) | NP_597676.3:p.Thr12041= | |
| NM_133437.4:c.36324T>C (TTN) | NP_597681.4:p.Thr12108= | |
| NR_038271.1:n.597-8814A>G (TTN-AS1) | ||
| NR_038272.1:n.3189-2357A>G (TTN-AS1) | ||
| XM_011511729.1:c.62040T>C (TTN) | XP_011510031.1:p.Thr20680= | |
| XM_011511730.1:c.35934T>C (TTN) | XP_011510032.1:p.Thr11978= | |
| XM_011511731.1:c.35793T>C (TTN) | XP_011510033.1:p.Thr11931= | |
| XM_017004819.1:c.61836T>C (TTN) | XP_016860308.1:p.Thr20612= | |
| XM_017004820.1:c.57234T>C (TTN) | XP_016860309.1:p.Thr19078= | |
| XM_017004821.1:c.57231T>C (TTN) | XP_016860310.1:p.Thr19077= | |
| XM_017004822.1:c.54273T>C (TTN) | XP_016860311.1:p.Thr18091= | |
| XM_017004823.1:c.35889T>C (TTN) | XP_016860312.1:p.Thr11963= | |
| XM_024453094.1:c.57384T>C (TTN) | XP_024308862.1:p.Thr19128= | |
| XM_024453095.1:c.57381T>C (TTN) | XP_024308863.1:p.Thr19127= | |
| XM_024453096.1:c.56814T>C (TTN) | XP_024308864.1:p.Thr18938= | |
| XM_024453097.1:c.54156T>C (TTN) | XP_024308865.1:p.Thr18052= | |
| XM_024453098.1:c.54075T>C (TTN) | XP_024308866.1:p.Thr18025= | |
| XM_024453099.1:c.35838T>C (TTN) | XP_024308867.1:p.Thr11946= | |
| XM_024453100.1:c.25692T>C (TTN) | XP_024308868.1:p.Thr8564= |