Linked Data
ClinVar Variation Id:
202527
ClinVar RCV Id:
RCV002362951
dbSNP Id:
rs752745266
ExAC:
2:179408646 A / T
gnomAD v2:
2-179408646-A-T
gnomAD v3:
2-178543919-A-T
gnomAD v4:
2-178543919-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543919A>T , CM000664.2:g.178543919A>T | GRCh38 |
| NC_000002.11:g.179408646A>T , CM000664.1:g.179408646A>T | GRCh37 |
| NC_000002.10:g.179116892A>T | NCBI36 |
| NG_011618.3:g.291884T>A , LRG_391:g.291884T>A | |
| NG_051363.1:g.26093A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.88521T>A (TTN) | ENSP00000343764.6:p.Val29507= | |
| ENST00000342175.11:c.69606T>A (TTN) | ENSP00000340554.6:p.Val23202= | |
| ENST00000359218.10:c.69405T>A (TTN) | ENSP00000352154.5:p.Val23135= | |
| ENST00000342175.10:c.69606T>A (TTN) | ENSP00000340554.6:p.Val23202= | |
| ENST00000342992.10:c.88521T>A (TTN) | ENSP00000343764.6:p.Val29507= | |
| ENST00000359218.9:c.69405T>A (TTN) | ENSP00000352154.5:p.Val23135= | |
| ENST00000460472.6:c.69030T>A (TTN) | ENSP00000434586.1:p.Val23010= | |
| ENST00000589042.5:c.96225T>A (TTN) MANE Select | ENSP00000467141.1:p.Val32075= | |
| ENST00000591111.5:c.91302T>A (TTN) | ENSP00000465570.1:p.Val30434= | |
| ENST00000615779.4:c.91302T>A (TTN) | ENSP00000483597.1:p.Val30434= | |
| NM_001256850.1:c.91302T>A (TTN) | NP_001243779.1:p.Val30434= | |
| NM_001267550.2:c.96225T>A (TTN) MANE Select | NP_001254479.2:p.Val32075= | |
| NM_003319.4:c.69030T>A (TTN) | NP_003310.4:p.Val23010= | |
| NM_133378.4:c.88521T>A (TTN) | NP_596869.4:p.Val29507= | |
| NM_133432.3:c.69405T>A (TTN) | NP_597676.3:p.Val23135= | |
| NM_133437.4:c.69606T>A (TTN) | NP_597681.4:p.Val23202= | |
| NR_038271.1:n.446+20283A>T (TTN-AS1) | ||
| NR_038272.1:n.2043+1558A>T (TTN-AS1) | ||
| XM_011511729.1:c.95322T>A (TTN) | XP_011510031.1:p.Val31774= | |
| XM_011511730.1:c.69216T>A (TTN) | XP_011510032.1:p.Val23072= | |
| XM_011511731.1:c.69075T>A (TTN) | XP_011510033.1:p.Val23025= | |
| XM_017004819.1:c.95118T>A (TTN) | XP_016860308.1:p.Val31706= | |
| XM_017004820.1:c.90516T>A (TTN) | XP_016860309.1:p.Val30172= | |
| XM_017004821.1:c.90513T>A (TTN) | XP_016860310.1:p.Val30171= | |
| XM_017004822.1:c.87555T>A (TTN) | XP_016860311.1:p.Val29185= | |
| XM_017004823.1:c.69171T>A (TTN) | XP_016860312.1:p.Val23057= | |
| XM_024453094.1:c.90666T>A (TTN) | XP_024308862.1:p.Val30222= | |
| XM_024453095.1:c.90663T>A (TTN) | XP_024308863.1:p.Val30221= | |
| XM_024453096.1:c.90096T>A (TTN) | XP_024308864.1:p.Val30032= | |
| XM_024453097.1:c.87438T>A (TTN) | XP_024308865.1:p.Val29146= | |
| XM_024453098.1:c.87357T>A (TTN) | XP_024308866.1:p.Val29119= | |
| XM_024453099.1:c.69120T>A (TTN) | XP_024308867.1:p.Val23040= | |
| XM_024453100.1:c.58974T>A (TTN) | XP_024308868.1:p.Val19658= |