Linked Data
ClinVar Variation Id:
223357
dbSNP Id:
rs769023413
ExAC:
2:179397934 C / A
gnomAD v2:
2-179397934-C-A
gnomAD v3:
2-178533207-C-A
gnomAD v4:
2-178533207-C-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533207C>A , CM000664.2:g.178533207C>A | GRCh38 |
| NC_000002.11:g.179397934C>A , CM000664.1:g.179397934C>A | GRCh37 |
| NC_000002.10:g.179106180C>A | NCBI36 |
| NG_011618.3:g.302596G>T , LRG_391:g.302596G>T | |
| NG_051363.1:g.15381C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95704G>T (TTN) | ENSP00000343764.6:p.Glu31902Ter | |
| ENST00000342175.11:c.76789G>T (TTN) | ENSP00000340554.6:p.Glu25597Ter | |
| ENST00000359218.10:c.76588G>T (TTN) | ENSP00000352154.5:p.Glu25530Ter | |
| ENST00000342175.10:c.76789G>T (TTN) | ENSP00000340554.6:p.Glu25597Ter | |
| ENST00000342992.10:c.95704G>T (TTN) | ENSP00000343764.6:p.Glu31902Ter | |
| ENST00000359218.9:c.76588G>T (TTN) | ENSP00000352154.5:p.Glu25530Ter | |
| ENST00000460472.6:c.76213G>T (TTN) | ENSP00000434586.1:p.Glu25405Ter | |
| ENST00000589042.5:c.103408G>T (TTN) MANE Select | ENSP00000467141.1:p.Glu34470Ter | |
| ENST00000591111.5:c.98485G>T (TTN) | ENSP00000465570.1:p.Glu32829Ter | |
| ENST00000615779.4:c.98485G>T (TTN) | ENSP00000483597.1:p.Glu32829Ter | |
| NM_001256850.1:c.98485G>T (TTN) | NP_001243779.1:p.Glu32829Ter | |
| NM_001267550.2:c.103408G>T (TTN) MANE Select | NP_001254479.2:p.Glu34470Ter | |
| NM_003319.4:c.76213G>T (TTN) | NP_003310.4:p.Glu25405Ter | |
| NM_133378.4:c.95704G>T (TTN) | NP_596869.4:p.Glu31902Ter | |
| NM_133432.3:c.76588G>T (TTN) | NP_597676.3:p.Glu25530Ter | |
| NM_133437.4:c.76789G>T (TTN) | NP_597681.4:p.Glu25597Ter | |
| NR_038271.1:n.446+9571C>A (TTN-AS1) | ||
| NR_038272.1:n.220-2525C>A (TTN-AS1) | ||
| XM_011511729.1:c.102505G>T (TTN) | XP_011510031.1:p.Glu34169Ter | |
| XM_011511730.1:c.76399G>T (TTN) | XP_011510032.1:p.Glu25467Ter | |
| XM_011511731.1:c.76258G>T (TTN) | XP_011510033.1:p.Glu25420Ter | |
| XM_017004819.1:c.102301G>T (TTN) | XP_016860308.1:p.Glu34101Ter | |
| XM_017004820.1:c.97699G>T (TTN) | XP_016860309.1:p.Glu32567Ter | |
| XM_017004821.1:c.97696G>T (TTN) | XP_016860310.1:p.Glu32566Ter | |
| XM_017004822.1:c.94738G>T (TTN) | XP_016860311.1:p.Glu31580Ter | |
| XM_017004823.1:c.76354G>T (TTN) | XP_016860312.1:p.Glu25452Ter | |
| XM_024453094.1:c.97849G>T (TTN) | XP_024308862.1:p.Glu32617Ter | |
| XM_024453095.1:c.97846G>T (TTN) | XP_024308863.1:p.Glu32616Ter | |
| XM_024453096.1:c.97279G>T (TTN) | XP_024308864.1:p.Glu32427Ter | |
| XM_024453097.1:c.94621G>T (TTN) | XP_024308865.1:p.Glu31541Ter | |
| XM_024453098.1:c.94540G>T (TTN) | XP_024308866.1:p.Glu31514Ter | |
| XM_024453099.1:c.76303G>T (TTN) | XP_024308867.1:p.Glu25435Ter | |
| XM_024453100.1:c.66157G>T (TTN) | XP_024308868.1:p.Glu22053Ter |