Linked Data
ClinVar Variation Id:
192200
ClinVar RCV Id:
RCV000172785
dbSNP Id:
rs786205328
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549786T>C , CM000664.2:g.178549786T>C | GRCh38 |
| NC_000002.11:g.179414513T>C , CM000664.1:g.179414513T>C | GRCh37 |
| NC_000002.10:g.179122759T>C | NCBI36 |
| NG_011618.3:g.286017A>G , LRG_391:g.286017A>G | |
| NG_051363.1:g.31960T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84232A>G (TTN) | ENSP00000343764.6:p.Asn28078Asp | |
| ENST00000342175.11:c.65317A>G (TTN) | ENSP00000340554.6:p.Asn21773Asp | |
| ENST00000359218.10:c.65116A>G (TTN) | ENSP00000352154.5:p.Asn21706Asp | |
| ENST00000342175.10:c.65317A>G (TTN) | ENSP00000340554.6:p.Asn21773Asp | |
| ENST00000342992.10:c.84232A>G (TTN) | ENSP00000343764.6:p.Asn28078Asp | |
| ENST00000359218.9:c.65116A>G (TTN) | ENSP00000352154.5:p.Asn21706Asp | |
| ENST00000460472.6:c.64741A>G (TTN) | ENSP00000434586.1:p.Asn21581Asp | |
| ENST00000589042.5:c.91936A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn30646Asp | |
| ENST00000591111.5:c.87013A>G (TTN) | ENSP00000465570.1:p.Asn29005Asp | |
| ENST00000615779.4:c.87013A>G (TTN) | ENSP00000483597.1:p.Asn29005Asp | |
| NM_001256850.1:c.87013A>G (TTN) | NP_001243779.1:p.Asn29005Asp | |
| NM_001267550.2:c.91936A>G (TTN) MANE Select | NP_001254479.2:p.Asn30646Asp | |
| NM_003319.4:c.64741A>G (TTN) | NP_003310.4:p.Asn21581Asp | |
| NM_133378.4:c.84232A>G (TTN) | NP_596869.4:p.Asn28078Asp | |
| NM_133432.3:c.65116A>G (TTN) | NP_597676.3:p.Asn21706Asp | |
| NM_133437.4:c.65317A>G (TTN) | NP_597681.4:p.Asn21773Asp | |
| NR_038271.1:n.447-21514T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+7425T>C (TTN-AS1) | ||
| XM_011511729.1:c.91033A>G (TTN) | XP_011510031.1:p.Asn30345Asp | |
| XM_011511730.1:c.64927A>G (TTN) | XP_011510032.1:p.Asn21643Asp | |
| XM_011511731.1:c.64786A>G (TTN) | XP_011510033.1:p.Asn21596Asp | |
| XM_017004819.1:c.90829A>G (TTN) | XP_016860308.1:p.Asn30277Asp | |
| XM_017004820.1:c.86227A>G (TTN) | XP_016860309.1:p.Asn28743Asp | |
| XM_017004821.1:c.86224A>G (TTN) | XP_016860310.1:p.Asn28742Asp | |
| XM_017004822.1:c.83266A>G (TTN) | XP_016860311.1:p.Asn27756Asp | |
| XM_017004823.1:c.64882A>G (TTN) | XP_016860312.1:p.Asn21628Asp | |
| XM_024453094.1:c.86377A>G (TTN) | XP_024308862.1:p.Asn28793Asp | |
| XM_024453095.1:c.86374A>G (TTN) | XP_024308863.1:p.Asn28792Asp | |
| XM_024453096.1:c.85807A>G (TTN) | XP_024308864.1:p.Asn28603Asp | |
| XM_024453097.1:c.83149A>G (TTN) | XP_024308865.1:p.Asn27717Asp | |
| XM_024453098.1:c.83068A>G (TTN) | XP_024308866.1:p.Asn27690Asp | |
| XM_024453099.1:c.64831A>G (TTN) | XP_024308867.1:p.Asn21611Asp | |
| XM_024453100.1:c.54685A>G (TTN) | XP_024308868.1:p.Asn18229Asp |