Linked Data
ClinVar Variation Id:
178198
ClinVar RCV Id:
RCV000154928
RCV000232589
RCV000336929
RCV000294934
RCV000298300
RCV000352280
RCV000392745
RCV000619951
RCV001528604
dbSNP Id:
rs375538420
ExAC:
2:179443924 G / A
gnomAD v2:
2-179443924-G-A
gnomAD v3:
2-178579197-G-A
gnomAD v4:
2-178579197-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579197G>A , CM000664.2:g.178579197G>A | GRCh38 |
| NC_000002.11:g.179443924G>A , CM000664.1:g.179443924G>A | GRCh37 |
| NC_000002.10:g.179152170G>A | NCBI36 |
| NG_011618.3:g.256606C>T , LRG_391:g.256606C>T | |
| NG_051363.1:g.61371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60129C>T (TTN) | ENSP00000343764.6:p.Tyr20043= | |
| ENST00000342175.11:c.41214C>T (TTN) | ENSP00000340554.6:p.Tyr13738= | |
| ENST00000359218.10:c.41013C>T (TTN) | ENSP00000352154.5:p.Tyr13671= | |
| ENST00000342175.10:c.41214C>T (TTN) | ENSP00000340554.6:p.Tyr13738= | |
| ENST00000342992.10:c.60129C>T (TTN) | ENSP00000343764.6:p.Tyr20043= | |
| ENST00000359218.9:c.41013C>T (TTN) | ENSP00000352154.5:p.Tyr13671= | |
| ENST00000460472.6:c.40638C>T (TTN) | ENSP00000434586.1:p.Tyr13546= | |
| ENST00000589042.5:c.67833C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr22611= | |
| ENST00000591111.5:c.62910C>T (TTN) | ENSP00000465570.1:p.Tyr20970= | |
| ENST00000615779.4:c.62910C>T (TTN) | ENSP00000483597.1:p.Tyr20970= | |
| NM_001256850.1:c.62910C>T (TTN) | NP_001243779.1:p.Tyr20970= | |
| NM_001267550.2:c.67833C>T (TTN) MANE Select | NP_001254479.2:p.Tyr22611= | |
| NM_003319.4:c.40638C>T (TTN) | NP_003310.4:p.Tyr13546= | |
| NM_133378.4:c.60129C>T (TTN) | NP_596869.4:p.Tyr20043= | |
| NM_133432.3:c.41013C>T (TTN) | NP_597676.3:p.Tyr13671= | |
| NM_133437.4:c.41214C>T (TTN) | NP_597681.4:p.Tyr13738= | |
| NR_038271.1:n.596+7748G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-3375G>A (TTN-AS1) | ||
| XM_011511729.1:c.66930C>T (TTN) | XP_011510031.1:p.Tyr22310= | |
| XM_011511730.1:c.40824C>T (TTN) | XP_011510032.1:p.Tyr13608= | |
| XM_011511731.1:c.40683C>T (TTN) | XP_011510033.1:p.Tyr13561= | |
| XM_017004819.1:c.66726C>T (TTN) | XP_016860308.1:p.Tyr22242= | |
| XM_017004820.1:c.62124C>T (TTN) | XP_016860309.1:p.Tyr20708= | |
| XM_017004821.1:c.62121C>T (TTN) | XP_016860310.1:p.Tyr20707= | |
| XM_017004822.1:c.59163C>T (TTN) | XP_016860311.1:p.Tyr19721= | |
| XM_017004823.1:c.40779C>T (TTN) | XP_016860312.1:p.Tyr13593= | |
| XM_024453094.1:c.62274C>T (TTN) | XP_024308862.1:p.Tyr20758= | |
| XM_024453095.1:c.62271C>T (TTN) | XP_024308863.1:p.Tyr20757= | |
| XM_024453096.1:c.61704C>T (TTN) | XP_024308864.1:p.Tyr20568= | |
| XM_024453097.1:c.59046C>T (TTN) | XP_024308865.1:p.Tyr19682= | |
| XM_024453098.1:c.58965C>T (TTN) | XP_024308866.1:p.Tyr19655= | |
| XM_024453099.1:c.40728C>T (TTN) | XP_024308867.1:p.Tyr13576= | |
| XM_024453100.1:c.30582C>T (TTN) | XP_024308868.1:p.Tyr10194= |