Linked Data
ClinVar Variation Id:
137810
dbSNP Id:
rs187180708
ExAC:
2:179425611 T / A
gnomAD v2:
2-179425611-T-A
gnomAD v3:
2-178560884-T-A
gnomAD v4:
2-178560884-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560884T>A , CM000664.2:g.178560884T>A | GRCh38 |
| NC_000002.11:g.179425611T>A , CM000664.1:g.179425611T>A | GRCh37 |
| NC_000002.10:g.179133857T>A | NCBI36 |
| NG_011618.3:g.274919A>T , LRG_391:g.274919A>T | |
| NG_051363.1:g.43058T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77544A>T (TTN) | ENSP00000343764.6:p.Thr25848= | |
| ENST00000342175.11:c.58629A>T (TTN) | ENSP00000340554.6:p.Thr19543= | |
| ENST00000359218.10:c.58428A>T (TTN) | ENSP00000352154.5:p.Thr19476= | |
| ENST00000342175.10:c.58629A>T (TTN) | ENSP00000340554.6:p.Thr19543= | |
| ENST00000342992.10:c.77544A>T (TTN) | ENSP00000343764.6:p.Thr25848= | |
| ENST00000359218.9:c.58428A>T (TTN) | ENSP00000352154.5:p.Thr19476= | |
| ENST00000460472.6:c.58053A>T (TTN) | ENSP00000434586.1:p.Thr19351= | |
| ENST00000589042.5:c.85248A>T (TTN) MANE Select | ENSP00000467141.1:p.Thr28416= | |
| ENST00000591111.5:c.80325A>T (TTN) | ENSP00000465570.1:p.Thr26775= | |
| ENST00000615779.4:c.80325A>T (TTN) | ENSP00000483597.1:p.Thr26775= | |
| NM_001256850.1:c.80325A>T (TTN) | NP_001243779.1:p.Thr26775= | |
| NM_001267550.2:c.85248A>T (TTN) MANE Select | NP_001254479.2:p.Thr28416= | |
| NM_003319.4:c.58053A>T (TTN) | NP_003310.4:p.Thr19351= | |
| NM_133378.4:c.77544A>T (TTN) | NP_596869.4:p.Thr25848= | |
| NM_133432.3:c.58428A>T (TTN) | NP_597676.3:p.Thr19476= | |
| NM_133437.4:c.58629A>T (TTN) | NP_597681.4:p.Thr19543= | |
| NR_038271.1:n.447-10416T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+18523T>A (TTN-AS1) | ||
| XM_011511729.1:c.84345A>T (TTN) | XP_011510031.1:p.Thr28115= | |
| XM_011511730.1:c.58239A>T (TTN) | XP_011510032.1:p.Thr19413= | |
| XM_011511731.1:c.58098A>T (TTN) | XP_011510033.1:p.Thr19366= | |
| XM_017004819.1:c.84141A>T (TTN) | XP_016860308.1:p.Thr28047= | |
| XM_017004820.1:c.79539A>T (TTN) | XP_016860309.1:p.Thr26513= | |
| XM_017004821.1:c.79536A>T (TTN) | XP_016860310.1:p.Thr26512= | |
| XM_017004822.1:c.76578A>T (TTN) | XP_016860311.1:p.Thr25526= | |
| XM_017004823.1:c.58194A>T (TTN) | XP_016860312.1:p.Thr19398= | |
| XM_024453094.1:c.79689A>T (TTN) | XP_024308862.1:p.Thr26563= | |
| XM_024453095.1:c.79686A>T (TTN) | XP_024308863.1:p.Thr26562= | |
| XM_024453096.1:c.79119A>T (TTN) | XP_024308864.1:p.Thr26373= | |
| XM_024453097.1:c.76461A>T (TTN) | XP_024308865.1:p.Thr25487= | |
| XM_024453098.1:c.76380A>T (TTN) | XP_024308866.1:p.Thr25460= | |
| XM_024453099.1:c.58143A>T (TTN) | XP_024308867.1:p.Thr19381= | |
| XM_024453100.1:c.47997A>T (TTN) | XP_024308868.1:p.Thr15999= |