Linked Data
ClinVar Variation Id:
420065
dbSNP Id:
rs776065839
ExAC:
2:179423146 G / A
gnomAD v2:
2-179423146-G-A
gnomAD v4:
2-178558419-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558419G>A , CM000664.2:g.178558419G>A | GRCh38 |
| NC_000002.11:g.179423146G>A , CM000664.1:g.179423146G>A | GRCh37 |
| NC_000002.10:g.179131392G>A | NCBI36 |
| NG_011618.3:g.277384C>T , LRG_391:g.277384C>T | |
| NG_051363.1:g.40593G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79336C>T (TTN) | ENSP00000343764.6:p.Arg26446Ter | |
| ENST00000342175.11:c.60421C>T (TTN) | ENSP00000340554.6:p.Arg20141Ter | |
| ENST00000359218.10:c.60220C>T (TTN) | ENSP00000352154.5:p.Arg20074Ter | |
| ENST00000342175.10:c.60421C>T (TTN) | ENSP00000340554.6:p.Arg20141Ter | |
| ENST00000342992.10:c.79336C>T (TTN) | ENSP00000343764.6:p.Arg26446Ter | |
| ENST00000359218.9:c.60220C>T (TTN) | ENSP00000352154.5:p.Arg20074Ter | |
| ENST00000460472.6:c.59845C>T (TTN) | ENSP00000434586.1:p.Arg19949Ter | |
| ENST00000589042.5:c.87040C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg29014Ter | |
| ENST00000591111.5:c.82117C>T (TTN) | ENSP00000465570.1:p.Arg27373Ter | |
| ENST00000615779.4:c.82117C>T (TTN) | ENSP00000483597.1:p.Arg27373Ter | |
| NM_001256850.1:c.82117C>T (TTN) | NP_001243779.1:p.Arg27373Ter | |
| NM_001267550.2:c.87040C>T (TTN) MANE Select | NP_001254479.2:p.Arg29014Ter | |
| NM_003319.4:c.59845C>T (TTN) | NP_003310.4:p.Arg19949Ter | |
| NM_133378.4:c.79336C>T (TTN) | NP_596869.4:p.Arg26446Ter | |
| NM_133432.3:c.60220C>T (TTN) | NP_597676.3:p.Arg20074Ter | |
| NM_133437.4:c.60421C>T (TTN) | NP_597681.4:p.Arg20141Ter | |
| NR_038271.1:n.447-12881G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+16058G>A (TTN-AS1) | ||
| XM_011511729.1:c.86137C>T (TTN) | XP_011510031.1:p.Arg28713Ter | |
| XM_011511730.1:c.60031C>T (TTN) | XP_011510032.1:p.Arg20011Ter | |
| XM_011511731.1:c.59890C>T (TTN) | XP_011510033.1:p.Arg19964Ter | |
| XM_017004819.1:c.85933C>T (TTN) | XP_016860308.1:p.Arg28645Ter | |
| XM_017004820.1:c.81331C>T (TTN) | XP_016860309.1:p.Arg27111Ter | |
| XM_017004821.1:c.81328C>T (TTN) | XP_016860310.1:p.Arg27110Ter | |
| XM_017004822.1:c.78370C>T (TTN) | XP_016860311.1:p.Arg26124Ter | |
| XM_017004823.1:c.59986C>T (TTN) | XP_016860312.1:p.Arg19996Ter | |
| XM_024453094.1:c.81481C>T (TTN) | XP_024308862.1:p.Arg27161Ter | |
| XM_024453095.1:c.81478C>T (TTN) | XP_024308863.1:p.Arg27160Ter | |
| XM_024453096.1:c.80911C>T (TTN) | XP_024308864.1:p.Arg26971Ter | |
| XM_024453097.1:c.78253C>T (TTN) | XP_024308865.1:p.Arg26085Ter | |
| XM_024453098.1:c.78172C>T (TTN) | XP_024308866.1:p.Arg26058Ter | |
| XM_024453099.1:c.59935C>T (TTN) | XP_024308867.1:p.Arg19979Ter | |
| XM_024453100.1:c.49789C>T (TTN) | XP_024308868.1:p.Arg16597Ter |