Linked Data
ClinVar Variation Id:
47518
ClinVar RCV Id:
RCV000040787
RCV000172200
RCV000472772
RCV001134954
RCV001134956
RCV001134952
RCV001134953
RCV001134955
RCV002354221
RCV003486607
dbSNP Id:
rs201400267
ExAC:
2:179414407 G / T
gnomAD v2:
2-179414407-G-T
gnomAD v3:
2-178549680-G-T
gnomAD v4:
2-178549680-G-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549680G>T , CM000664.2:g.178549680G>T | GRCh38 |
| NC_000002.11:g.179414407G>T , CM000664.1:g.179414407G>T | GRCh37 |
| NC_000002.10:g.179122653G>T | NCBI36 |
| NG_011618.3:g.286123C>A , LRG_391:g.286123C>A | |
| NG_051363.1:g.31854G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84338C>A (TTN) | ENSP00000343764.6:p.Ala28113Asp | |
| ENST00000342175.11:c.65423C>A (TTN) | ENSP00000340554.6:p.Ala21808Asp | |
| ENST00000359218.10:c.65222C>A (TTN) | ENSP00000352154.5:p.Ala21741Asp | |
| ENST00000342175.10:c.65423C>A (TTN) | ENSP00000340554.6:p.Ala21808Asp | |
| ENST00000342992.10:c.84338C>A (TTN) | ENSP00000343764.6:p.Ala28113Asp | |
| ENST00000359218.9:c.65222C>A (TTN) | ENSP00000352154.5:p.Ala21741Asp | |
| ENST00000460472.6:c.64847C>A (TTN) | ENSP00000434586.1:p.Ala21616Asp | |
| ENST00000589042.5:c.92042C>A (TTN) MANE Select | ENSP00000467141.1:p.Ala30681Asp | |
| ENST00000591111.5:c.87119C>A (TTN) | ENSP00000465570.1:p.Ala29040Asp | |
| ENST00000615779.4:c.87119C>A (TTN) | ENSP00000483597.1:p.Ala29040Asp | |
| NM_001256850.1:c.87119C>A (TTN) | NP_001243779.1:p.Ala29040Asp | |
| NM_001267550.2:c.92042C>A (TTN) MANE Select | NP_001254479.2:p.Ala30681Asp | |
| NM_003319.4:c.64847C>A (TTN) | NP_003310.4:p.Ala21616Asp | |
| NM_133378.4:c.84338C>A (TTN) | NP_596869.4:p.Ala28113Asp | |
| NM_133432.3:c.65222C>A (TTN) | NP_597676.3:p.Ala21741Asp | |
| NM_133437.4:c.65423C>A (TTN) | NP_597681.4:p.Ala21808Asp | |
| NR_038271.1:n.447-21620G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+7319G>T (TTN-AS1) | ||
| XM_011511729.1:c.91139C>A (TTN) | XP_011510031.1:p.Ala30380Asp | |
| XM_011511730.1:c.65033C>A (TTN) | XP_011510032.1:p.Ala21678Asp | |
| XM_011511731.1:c.64892C>A (TTN) | XP_011510033.1:p.Ala21631Asp | |
| XM_017004819.1:c.90935C>A (TTN) | XP_016860308.1:p.Ala30312Asp | |
| XM_017004820.1:c.86333C>A (TTN) | XP_016860309.1:p.Ala28778Asp | |
| XM_017004821.1:c.86330C>A (TTN) | XP_016860310.1:p.Ala28777Asp | |
| XM_017004822.1:c.83372C>A (TTN) | XP_016860311.1:p.Ala27791Asp | |
| XM_017004823.1:c.64988C>A (TTN) | XP_016860312.1:p.Ala21663Asp | |
| XM_024453094.1:c.86483C>A (TTN) | XP_024308862.1:p.Ala28828Asp | |
| XM_024453095.1:c.86480C>A (TTN) | XP_024308863.1:p.Ala28827Asp | |
| XM_024453096.1:c.85913C>A (TTN) | XP_024308864.1:p.Ala28638Asp | |
| XM_024453097.1:c.83255C>A (TTN) | XP_024308865.1:p.Ala27752Asp | |
| XM_024453098.1:c.83174C>A (TTN) | XP_024308866.1:p.Ala27725Asp | |
| XM_024453099.1:c.64937C>A (TTN) | XP_024308867.1:p.Ala21646Asp | |
| XM_024453100.1:c.54791C>A (TTN) | XP_024308868.1:p.Ala18264Asp |