Linked Data
ClinVar Variation Id:
196150
dbSNP Id:
rs72648235
ExAC:
2:179419389 C / T
gnomAD v2:
2-179419389-C-T
gnomAD v3:
2-178554662-C-T
gnomAD v4:
2-178554662-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554662C>T , CM000664.2:g.178554662C>T | GRCh38 |
| NC_000002.11:g.179419389C>T , CM000664.1:g.179419389C>T | GRCh37 |
| NC_000002.10:g.179127635C>T | NCBI36 |
| NG_011618.3:g.281141G>A , LRG_391:g.281141G>A | |
| NG_051363.1:g.36836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80981G>A (TTN) | ENSP00000343764.6:p.Gly26994Asp | |
| ENST00000342175.11:c.62066G>A (TTN) | ENSP00000340554.6:p.Gly20689Asp | |
| ENST00000359218.10:c.61865G>A (TTN) | ENSP00000352154.5:p.Gly20622Asp | |
| ENST00000342175.10:c.62066G>A (TTN) | ENSP00000340554.6:p.Gly20689Asp | |
| ENST00000342992.10:c.80981G>A (TTN) | ENSP00000343764.6:p.Gly26994Asp | |
| ENST00000359218.9:c.61865G>A (TTN) | ENSP00000352154.5:p.Gly20622Asp | |
| ENST00000460472.6:c.61490G>A (TTN) | ENSP00000434586.1:p.Gly20497Asp | |
| ENST00000589042.5:c.88685G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly29562Asp | |
| ENST00000591111.5:c.83762G>A (TTN) | ENSP00000465570.1:p.Gly27921Asp | |
| ENST00000615779.4:c.83762G>A (TTN) | ENSP00000483597.1:p.Gly27921Asp | |
| NM_001256850.1:c.83762G>A (TTN) | NP_001243779.1:p.Gly27921Asp | |
| NM_001267550.2:c.88685G>A (TTN) MANE Select | NP_001254479.2:p.Gly29562Asp | |
| NM_003319.4:c.61490G>A (TTN) | NP_003310.4:p.Gly20497Asp | |
| NM_133378.4:c.80981G>A (TTN) | NP_596869.4:p.Gly26994Asp | |
| NM_133432.3:c.61865G>A (TTN) | NP_597676.3:p.Gly20622Asp | |
| NM_133437.4:c.62066G>A (TTN) | NP_597681.4:p.Gly20689Asp | |
| NR_038271.1:n.447-16638C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+12301C>T (TTN-AS1) | ||
| XM_011511729.1:c.87782G>A (TTN) | XP_011510031.1:p.Gly29261Asp | |
| XM_011511730.1:c.61676G>A (TTN) | XP_011510032.1:p.Gly20559Asp | |
| XM_011511731.1:c.61535G>A (TTN) | XP_011510033.1:p.Gly20512Asp | |
| XM_017004819.1:c.87578G>A (TTN) | XP_016860308.1:p.Gly29193Asp | |
| XM_017004820.1:c.82976G>A (TTN) | XP_016860309.1:p.Gly27659Asp | |
| XM_017004821.1:c.82973G>A (TTN) | XP_016860310.1:p.Gly27658Asp | |
| XM_017004822.1:c.80015G>A (TTN) | XP_016860311.1:p.Gly26672Asp | |
| XM_017004823.1:c.61631G>A (TTN) | XP_016860312.1:p.Gly20544Asp | |
| XM_024453094.1:c.83126G>A (TTN) | XP_024308862.1:p.Gly27709Asp | |
| XM_024453095.1:c.83123G>A (TTN) | XP_024308863.1:p.Gly27708Asp | |
| XM_024453096.1:c.82556G>A (TTN) | XP_024308864.1:p.Gly27519Asp | |
| XM_024453097.1:c.79898G>A (TTN) | XP_024308865.1:p.Gly26633Asp | |
| XM_024453098.1:c.79817G>A (TTN) | XP_024308866.1:p.Gly26606Asp | |
| XM_024453099.1:c.61580G>A (TTN) | XP_024308867.1:p.Gly20527Asp | |
| XM_024453100.1:c.51434G>A (TTN) | XP_024308868.1:p.Gly17145Asp |