Linked Data
ClinVar Variation Id:
178180
ClinVar RCV Id:
RCV000154907
RCV000621827
RCV000543680
RCV001132347
RCV001132346
RCV001132343
RCV001132344
RCV001132345
RCV001704124
RCV004534970
dbSNP Id:
rs201272728
ExAC:
2:179425343 G / T
gnomAD v2:
2-179425343-G-T
gnomAD v3:
2-178560616-G-T
gnomAD v4:
2-178560616-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560616G>T , CM000664.2:g.178560616G>T | GRCh38 |
| NC_000002.11:g.179425343G>T , CM000664.1:g.179425343G>T | GRCh37 |
| NC_000002.10:g.179133589G>T | NCBI36 |
| NG_011618.3:g.275187C>A , LRG_391:g.275187C>A | |
| NG_051363.1:g.42790G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77812C>A (TTN) | ENSP00000343764.6:p.Gln25938Lys | |
| ENST00000342175.11:c.58897C>A (TTN) | ENSP00000340554.6:p.Gln19633Lys | |
| ENST00000359218.10:c.58696C>A (TTN) | ENSP00000352154.5:p.Gln19566Lys | |
| ENST00000342175.10:c.58897C>A (TTN) | ENSP00000340554.6:p.Gln19633Lys | |
| ENST00000342992.10:c.77812C>A (TTN) | ENSP00000343764.6:p.Gln25938Lys | |
| ENST00000359218.9:c.58696C>A (TTN) | ENSP00000352154.5:p.Gln19566Lys | |
| ENST00000460472.6:c.58321C>A (TTN) | ENSP00000434586.1:p.Gln19441Lys | |
| ENST00000589042.5:c.85516C>A (TTN) MANE Select | ENSP00000467141.1:p.Gln28506Lys | |
| ENST00000591111.5:c.80593C>A (TTN) | ENSP00000465570.1:p.Gln26865Lys | |
| ENST00000615779.4:c.80593C>A (TTN) | ENSP00000483597.1:p.Gln26865Lys | |
| NM_001256850.1:c.80593C>A (TTN) | NP_001243779.1:p.Gln26865Lys | |
| NM_001267550.2:c.85516C>A (TTN) MANE Select | NP_001254479.2:p.Gln28506Lys | |
| NM_003319.4:c.58321C>A (TTN) | NP_003310.4:p.Gln19441Lys | |
| NM_133378.4:c.77812C>A (TTN) | NP_596869.4:p.Gln25938Lys | |
| NM_133432.3:c.58696C>A (TTN) | NP_597676.3:p.Gln19566Lys | |
| NM_133437.4:c.58897C>A (TTN) | NP_597681.4:p.Gln19633Lys | |
| NR_038271.1:n.447-10684G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18255G>T (TTN-AS1) | ||
| XM_011511729.1:c.84613C>A (TTN) | XP_011510031.1:p.Gln28205Lys | |
| XM_011511730.1:c.58507C>A (TTN) | XP_011510032.1:p.Gln19503Lys | |
| XM_011511731.1:c.58366C>A (TTN) | XP_011510033.1:p.Gln19456Lys | |
| XM_017004819.1:c.84409C>A (TTN) | XP_016860308.1:p.Gln28137Lys | |
| XM_017004820.1:c.79807C>A (TTN) | XP_016860309.1:p.Gln26603Lys | |
| XM_017004821.1:c.79804C>A (TTN) | XP_016860310.1:p.Gln26602Lys | |
| XM_017004822.1:c.76846C>A (TTN) | XP_016860311.1:p.Gln25616Lys | |
| XM_017004823.1:c.58462C>A (TTN) | XP_016860312.1:p.Gln19488Lys | |
| XM_024453094.1:c.79957C>A (TTN) | XP_024308862.1:p.Gln26653Lys | |
| XM_024453095.1:c.79954C>A (TTN) | XP_024308863.1:p.Gln26652Lys | |
| XM_024453096.1:c.79387C>A (TTN) | XP_024308864.1:p.Gln26463Lys | |
| XM_024453097.1:c.76729C>A (TTN) | XP_024308865.1:p.Gln25577Lys | |
| XM_024453098.1:c.76648C>A (TTN) | XP_024308866.1:p.Gln25550Lys | |
| XM_024453099.1:c.58411C>A (TTN) | XP_024308867.1:p.Gln19471Lys | |
| XM_024453100.1:c.48265C>A (TTN) | XP_024308868.1:p.Gln16089Lys |