Linked Data
ClinVar Variation Id:
332840
ClinVar RCV Id:
RCV000310136
RCV000287510
RCV000367112
RCV000390826
RCV000396711
RCV001660689
RCV003486818
dbSNP Id:
rs886055267
ExAC:
2:179473084 C / T
gnomAD v2:
2-179473084-C-T
gnomAD v3:
2-178608357-C-T
gnomAD v4:
2-178608357-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608357C>T , CM000664.2:g.178608357C>T | GRCh38 |
| NC_000002.11:g.179473084C>T , CM000664.1:g.179473084C>T | GRCh37 |
| NC_000002.10:g.179181329C>T | NCBI36 |
| NG_011618.3:g.227446G>A , LRG_391:g.227446G>A | |
| NG_051363.1:g.90531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44822G>A (TTN) | ENSP00000343764.6:p.Arg14941His | |
| ENST00000342175.11:c.25907G>A (TTN) | ENSP00000340554.6:p.Arg8636His | |
| ENST00000359218.10:c.25706G>A (TTN) | ENSP00000352154.5:p.Arg8569His | |
| ENST00000342175.10:c.25907G>A (TTN) | ENSP00000340554.6:p.Arg8636His | |
| ENST00000342992.10:c.44822G>A (TTN) | ENSP00000343764.6:p.Arg14941His | |
| ENST00000359218.9:c.25706G>A (TTN) | ENSP00000352154.5:p.Arg8569His | |
| ENST00000460472.6:c.25331G>A (TTN) | ENSP00000434586.1:p.Arg8444His | |
| ENST00000589042.5:c.52526G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17509His | |
| ENST00000591111.5:c.47603G>A (TTN) | ENSP00000465570.1:p.Arg15868His | |
| ENST00000615779.4:c.47603G>A (TTN) | ENSP00000483597.1:p.Arg15868His | |
| NM_001256850.1:c.47603G>A (TTN) | NP_001243779.1:p.Arg15868His | |
| NM_001267550.2:c.52526G>A (TTN) MANE Select | NP_001254479.2:p.Arg17509His | |
| NM_003319.4:c.25331G>A (TTN) | NP_003310.4:p.Arg8444His | |
| NM_133378.4:c.44822G>A (TTN) | NP_596869.4:p.Arg14941His | |
| NM_133432.3:c.25706G>A (TTN) | NP_597676.3:p.Arg8569His | |
| NM_133437.4:c.25907G>A (TTN) | NP_597681.4:p.Arg8636His | |
| NR_038271.1:n.782+91C>T (TTN-AS1) | ||
| XM_011511729.1:c.51623G>A (TTN) | XP_011510031.1:p.Arg17208His | |
| XM_011511730.1:c.25517G>A (TTN) | XP_011510032.1:p.Arg8506His | |
| XM_011511731.1:c.25376G>A (TTN) | XP_011510033.1:p.Arg8459His | |
| XM_017004819.1:c.51419G>A (TTN) | XP_016860308.1:p.Arg17140His | |
| XM_017004820.1:c.46817G>A (TTN) | XP_016860309.1:p.Arg15606His | |
| XM_017004821.1:c.46814G>A (TTN) | XP_016860310.1:p.Arg15605His | |
| XM_017004822.1:c.43856G>A (TTN) | XP_016860311.1:p.Arg14619His | |
| XM_017004823.1:c.25472G>A (TTN) | XP_016860312.1:p.Arg8491His | |
| XM_024453094.1:c.46967G>A (TTN) | XP_024308862.1:p.Arg15656His | |
| XM_024453095.1:c.46964G>A (TTN) | XP_024308863.1:p.Arg15655His | |
| XM_024453096.1:c.46397G>A (TTN) | XP_024308864.1:p.Arg15466His | |
| XM_024453097.1:c.43739G>A (TTN) | XP_024308865.1:p.Arg14580His | |
| XM_024453098.1:c.43658G>A (TTN) | XP_024308866.1:p.Arg14553His | |
| XM_024453099.1:c.25421G>A (TTN) | XP_024308867.1:p.Arg8474His | |
| XM_024453100.1:c.15275G>A (TTN) | XP_024308868.1:p.Arg5092His |