Linked Data
ClinVar Variation Id:
191819
ClinVar RCV Id:
RCV000172159
RCV000729500
RCV001084327
RCV001133963
RCV001133964
RCV001133965
RCV001133966
RCV001131016
RCV004535168
dbSNP Id:
rs149391616
ExAC:
2:179397930 C / T
gnomAD v2:
2-179397930-C-T
gnomAD v3:
2-178533203-C-T
gnomAD v4:
2-178533203-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533203C>T , CM000664.2:g.178533203C>T | GRCh38 |
| NC_000002.11:g.179397930C>T , CM000664.1:g.179397930C>T | GRCh37 |
| NC_000002.10:g.179106176C>T | NCBI36 |
| NG_011618.3:g.302600G>A , LRG_391:g.302600G>A | |
| NG_051363.1:g.15377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95708G>A (TTN) | ENSP00000343764.6:p.Arg31903Gln | |
| ENST00000342175.11:c.76793G>A (TTN) | ENSP00000340554.6:p.Arg25598Gln | |
| ENST00000359218.10:c.76592G>A (TTN) | ENSP00000352154.5:p.Arg25531Gln | |
| ENST00000342175.10:c.76793G>A (TTN) | ENSP00000340554.6:p.Arg25598Gln | |
| ENST00000342992.10:c.95708G>A (TTN) | ENSP00000343764.6:p.Arg31903Gln | |
| ENST00000359218.9:c.76592G>A (TTN) | ENSP00000352154.5:p.Arg25531Gln | |
| ENST00000460472.6:c.76217G>A (TTN) | ENSP00000434586.1:p.Arg25406Gln | |
| ENST00000589042.5:c.103412G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34471Gln | |
| ENST00000591111.5:c.98489G>A (TTN) | ENSP00000465570.1:p.Arg32830Gln | |
| ENST00000615779.4:c.98489G>A (TTN) | ENSP00000483597.1:p.Arg32830Gln | |
| NM_001256850.1:c.98489G>A (TTN) | NP_001243779.1:p.Arg32830Gln | |
| NM_001267550.2:c.103412G>A (TTN) MANE Select | NP_001254479.2:p.Arg34471Gln | |
| NM_003319.4:c.76217G>A (TTN) | NP_003310.4:p.Arg25406Gln | |
| NM_133378.4:c.95708G>A (TTN) | NP_596869.4:p.Arg31903Gln | |
| NM_133432.3:c.76592G>A (TTN) | NP_597676.3:p.Arg25531Gln | |
| NM_133437.4:c.76793G>A (TTN) | NP_597681.4:p.Arg25598Gln | |
| NR_038271.1:n.446+9567C>T (TTN-AS1) | ||
| NR_038272.1:n.220-2529C>T (TTN-AS1) | ||
| XM_011511729.1:c.102509G>A (TTN) | XP_011510031.1:p.Arg34170Gln | |
| XM_011511730.1:c.76403G>A (TTN) | XP_011510032.1:p.Arg25468Gln | |
| XM_011511731.1:c.76262G>A (TTN) | XP_011510033.1:p.Arg25421Gln | |
| XM_017004819.1:c.102305G>A (TTN) | XP_016860308.1:p.Arg34102Gln | |
| XM_017004820.1:c.97703G>A (TTN) | XP_016860309.1:p.Arg32568Gln | |
| XM_017004821.1:c.97700G>A (TTN) | XP_016860310.1:p.Arg32567Gln | |
| XM_017004822.1:c.94742G>A (TTN) | XP_016860311.1:p.Arg31581Gln | |
| XM_017004823.1:c.76358G>A (TTN) | XP_016860312.1:p.Arg25453Gln | |
| XM_024453094.1:c.97853G>A (TTN) | XP_024308862.1:p.Arg32618Gln | |
| XM_024453095.1:c.97850G>A (TTN) | XP_024308863.1:p.Arg32617Gln | |
| XM_024453096.1:c.97283G>A (TTN) | XP_024308864.1:p.Arg32428Gln | |
| XM_024453097.1:c.94625G>A (TTN) | XP_024308865.1:p.Arg31542Gln | |
| XM_024453098.1:c.94544G>A (TTN) | XP_024308866.1:p.Arg31515Gln | |
| XM_024453099.1:c.76307G>A (TTN) | XP_024308867.1:p.Arg25436Gln | |
| XM_024453100.1:c.66161G>A (TTN) | XP_024308868.1:p.Arg22054Gln |