Linked Data
ClinVar Variation Id:
192154
dbSNP Id:
rs143186270
ExAC:
2:179433872 C / T
gnomAD v2:
2-179433872-C-T
gnomAD v3:
2-178569145-C-T
gnomAD v4:
2-178569145-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569145C>T , CM000664.2:g.178569145C>T | GRCh38 |
| NC_000002.11:g.179433872C>T , CM000664.1:g.179433872C>T | GRCh37 |
| NC_000002.10:g.179142118C>T | NCBI36 |
| NG_011618.3:g.266658G>A , LRG_391:g.266658G>A | |
| NG_051363.1:g.51319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69283G>A (TTN) | ENSP00000343764.6:p.Asp23095Asn | |
| ENST00000342175.11:c.50368G>A (TTN) | ENSP00000340554.6:p.Asp16790Asn | |
| ENST00000359218.10:c.50167G>A (TTN) | ENSP00000352154.5:p.Asp16723Asn | |
| ENST00000342175.10:c.50368G>A (TTN) | ENSP00000340554.6:p.Asp16790Asn | |
| ENST00000342992.10:c.69283G>A (TTN) | ENSP00000343764.6:p.Asp23095Asn | |
| ENST00000359218.9:c.50167G>A (TTN) | ENSP00000352154.5:p.Asp16723Asn | |
| ENST00000460472.6:c.49792G>A (TTN) | ENSP00000434586.1:p.Asp16598Asn | |
| ENST00000589042.5:c.76987G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp25663Asn | |
| ENST00000591111.5:c.72064G>A (TTN) | ENSP00000465570.1:p.Asp24022Asn | |
| ENST00000615779.4:c.72064G>A (TTN) | ENSP00000483597.1:p.Asp24022Asn | |
| NM_001256850.1:c.72064G>A (TTN) | NP_001243779.1:p.Asp24022Asn | |
| NM_001267550.2:c.76987G>A (TTN) MANE Select | NP_001254479.2:p.Asp25663Asn | |
| NM_003319.4:c.49792G>A (TTN) | NP_003310.4:p.Asp16598Asn | |
| NM_133378.4:c.69283G>A (TTN) | NP_596869.4:p.Asp23095Asn | |
| NM_133432.3:c.50167G>A (TTN) | NP_597676.3:p.Asp16723Asn | |
| NM_133437.4:c.50368G>A (TTN) | NP_597681.4:p.Asp16790Asn | |
| NR_038271.1:n.447-2155C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13427C>T (TTN-AS1) | ||
| XM_011511729.1:c.76084G>A (TTN) | XP_011510031.1:p.Asp25362Asn | |
| XM_011511730.1:c.49978G>A (TTN) | XP_011510032.1:p.Asp16660Asn | |
| XM_011511731.1:c.49837G>A (TTN) | XP_011510033.1:p.Asp16613Asn | |
| XM_017004819.1:c.75880G>A (TTN) | XP_016860308.1:p.Asp25294Asn | |
| XM_017004820.1:c.71278G>A (TTN) | XP_016860309.1:p.Asp23760Asn | |
| XM_017004821.1:c.71275G>A (TTN) | XP_016860310.1:p.Asp23759Asn | |
| XM_017004822.1:c.68317G>A (TTN) | XP_016860311.1:p.Asp22773Asn | |
| XM_017004823.1:c.49933G>A (TTN) | XP_016860312.1:p.Asp16645Asn | |
| XM_024453094.1:c.71428G>A (TTN) | XP_024308862.1:p.Asp23810Asn | |
| XM_024453095.1:c.71425G>A (TTN) | XP_024308863.1:p.Asp23809Asn | |
| XM_024453096.1:c.70858G>A (TTN) | XP_024308864.1:p.Asp23620Asn | |
| XM_024453097.1:c.68200G>A (TTN) | XP_024308865.1:p.Asp22734Asn | |
| XM_024453098.1:c.68119G>A (TTN) | XP_024308866.1:p.Asp22707Asn | |
| XM_024453099.1:c.49882G>A (TTN) | XP_024308867.1:p.Asp16628Asn | |
| XM_024453100.1:c.39736G>A (TTN) | XP_024308868.1:p.Asp13246Asn |