Linked Data
ClinVar Variation Id:
166024
ClinVar RCV Id:
RCV000152345
RCV000343952
RCV000277761
RCV000291298
RCV000553961
RCV000330386
RCV000388479
RCV003137657
RCV002415642
dbSNP Id:
rs727503622
ExAC:
2:179481638 G / T
gnomAD v2:
2-179481638-G-T
gnomAD v3:
2-178616911-G-T
gnomAD v4:
2-178616911-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178616911G>T , CM000664.2:g.178616911G>T | GRCh38 |
| NC_000002.11:g.179481638G>T , CM000664.1:g.179481638G>T | GRCh37 |
| NC_000002.10:g.179189883G>T | NCBI36 |
| NG_011618.3:g.218892C>A , LRG_391:g.218892C>A | |
| NG_051363.1:g.99085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40274C>A (TTN) | ENSP00000343764.6:p.Thr13425Asn | |
| ENST00000342175.11:c.21359C>A (TTN) | ENSP00000340554.6:p.Thr7120Asn | |
| ENST00000359218.10:c.21158C>A (TTN) | ENSP00000352154.5:p.Thr7053Asn | |
| ENST00000342175.10:c.21359C>A (TTN) | ENSP00000340554.6:p.Thr7120Asn | |
| ENST00000342992.10:c.40274C>A (TTN) | ENSP00000343764.6:p.Thr13425Asn | |
| ENST00000359218.9:c.21158C>A (TTN) | ENSP00000352154.5:p.Thr7053Asn | |
| ENST00000460472.6:c.20783C>A (TTN) | ENSP00000434586.1:p.Thr6928Asn | |
| ENST00000589042.5:c.47978C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr15993Asn | |
| ENST00000591111.5:c.43055C>A (TTN) | ENSP00000465570.1:p.Thr14352Asn | |
| ENST00000615779.4:c.43055C>A (TTN) | ENSP00000483597.1:p.Thr14352Asn | |
| NM_001256850.1:c.43055C>A (TTN) | NP_001243779.1:p.Thr14352Asn | |
| NM_001267550.2:c.47978C>A (TTN) MANE Select | NP_001254479.2:p.Thr15993Asn | |
| NM_003319.4:c.20783C>A (TTN) | NP_003310.4:p.Thr6928Asn | |
| NM_133378.4:c.40274C>A (TTN) | NP_596869.4:p.Thr13425Asn | |
| NM_133432.3:c.21158C>A (TTN) | NP_597676.3:p.Thr7053Asn | |
| NM_133437.4:c.21359C>A (TTN) | NP_597681.4:p.Thr7120Asn | |
| NR_038271.1:n.1604+1537G>T (TTN-AS1) | ||
| XM_011511729.1:c.47075C>A (TTN) | XP_011510031.1:p.Thr15692Asn | |
| XM_011511730.1:c.20969C>A (TTN) | XP_011510032.1:p.Thr6990Asn | |
| XM_011511731.1:c.20828C>A (TTN) | XP_011510033.1:p.Thr6943Asn | |
| XM_017004819.1:c.46871C>A (TTN) | XP_016860308.1:p.Thr15624Asn | |
| XM_017004820.1:c.42269C>A (TTN) | XP_016860309.1:p.Thr14090Asn | |
| XM_017004821.1:c.42266C>A (TTN) | XP_016860310.1:p.Thr14089Asn | |
| XM_017004822.1:c.39308C>A (TTN) | XP_016860311.1:p.Thr13103Asn | |
| XM_017004823.1:c.20924C>A (TTN) | XP_016860312.1:p.Thr6975Asn | |
| XM_024453094.1:c.42419C>A (TTN) | XP_024308862.1:p.Thr14140Asn | |
| XM_024453095.1:c.42416C>A (TTN) | XP_024308863.1:p.Thr14139Asn | |
| XM_024453096.1:c.41849C>A (TTN) | XP_024308864.1:p.Thr13950Asn | |
| XM_024453097.1:c.39191C>A (TTN) | XP_024308865.1:p.Thr13064Asn | |
| XM_024453098.1:c.39110C>A (TTN) | XP_024308866.1:p.Thr13037Asn | |
| XM_024453099.1:c.20873C>A (TTN) | XP_024308867.1:p.Thr6958Asn | |
| XM_024453100.1:c.10727C>A (TTN) | XP_024308868.1:p.Thr3576Asn |