Linked Data
ClinVar Variation Id:
467703
dbSNP Id:
rs201850303
ExAC:
2:179404567 C / T
gnomAD v2:
2-179404567-C-T
gnomAD v3:
2-178539840-C-T
gnomAD v4:
2-178539840-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539840C>T , CM000664.2:g.178539840C>T | GRCh38 |
| NC_000002.11:g.179404567C>T , CM000664.1:g.179404567C>T | GRCh37 |
| NC_000002.10:g.179112813C>T | NCBI36 |
| NG_011618.3:g.295963G>A , LRG_391:g.295963G>A | |
| NG_051363.1:g.22014C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90521G>A (TTN) | ENSP00000343764.6:p.Gly30174Asp | |
| ENST00000342175.11:c.71606G>A (TTN) | ENSP00000340554.6:p.Gly23869Asp | |
| ENST00000359218.10:c.71405G>A (TTN) | ENSP00000352154.5:p.Gly23802Asp | |
| ENST00000342175.10:c.71606G>A (TTN) | ENSP00000340554.6:p.Gly23869Asp | |
| ENST00000342992.10:c.90521G>A (TTN) | ENSP00000343764.6:p.Gly30174Asp | |
| ENST00000359218.9:c.71405G>A (TTN) | ENSP00000352154.5:p.Gly23802Asp | |
| ENST00000460472.6:c.71030G>A (TTN) | ENSP00000434586.1:p.Gly23677Asp | |
| ENST00000589042.5:c.98225G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly32742Asp | |
| ENST00000591111.5:c.93302G>A (TTN) | ENSP00000465570.1:p.Gly31101Asp | |
| ENST00000615779.4:c.93302G>A (TTN) | ENSP00000483597.1:p.Gly31101Asp | |
| NM_001256850.1:c.93302G>A (TTN) | NP_001243779.1:p.Gly31101Asp | |
| NM_001267550.2:c.98225G>A (TTN) MANE Select | NP_001254479.2:p.Gly32742Asp | |
| NM_003319.4:c.71030G>A (TTN) | NP_003310.4:p.Gly23677Asp | |
| NM_133378.4:c.90521G>A (TTN) | NP_596869.4:p.Gly30174Asp | |
| NM_133432.3:c.71405G>A (TTN) | NP_597676.3:p.Gly23802Asp | |
| NM_133437.4:c.71606G>A (TTN) | NP_597681.4:p.Gly23869Asp | |
| NR_038271.1:n.446+16204C>T (TTN-AS1) | ||
| NR_038272.1:n.1790C>T (TTN-AS1) | ||
| XM_011511729.1:c.97322G>A (TTN) | XP_011510031.1:p.Gly32441Asp | |
| XM_011511730.1:c.71216G>A (TTN) | XP_011510032.1:p.Gly23739Asp | |
| XM_011511731.1:c.71075G>A (TTN) | XP_011510033.1:p.Gly23692Asp | |
| XM_017004819.1:c.97118G>A (TTN) | XP_016860308.1:p.Gly32373Asp | |
| XM_017004820.1:c.92516G>A (TTN) | XP_016860309.1:p.Gly30839Asp | |
| XM_017004821.1:c.92513G>A (TTN) | XP_016860310.1:p.Gly30838Asp | |
| XM_017004822.1:c.89555G>A (TTN) | XP_016860311.1:p.Gly29852Asp | |
| XM_017004823.1:c.71171G>A (TTN) | XP_016860312.1:p.Gly23724Asp | |
| XM_024453094.1:c.92666G>A (TTN) | XP_024308862.1:p.Gly30889Asp | |
| XM_024453095.1:c.92663G>A (TTN) | XP_024308863.1:p.Gly30888Asp | |
| XM_024453096.1:c.92096G>A (TTN) | XP_024308864.1:p.Gly30699Asp | |
| XM_024453097.1:c.89438G>A (TTN) | XP_024308865.1:p.Gly29813Asp | |
| XM_024453098.1:c.89357G>A (TTN) | XP_024308866.1:p.Gly29786Asp | |
| XM_024453099.1:c.71120G>A (TTN) | XP_024308867.1:p.Gly23707Asp | |
| XM_024453100.1:c.60974G>A (TTN) | XP_024308868.1:p.Gly20325Asp |