Linked Data
ClinVar Variation Id:
191880
ClinVar RCV Id:
RCV000172237
RCV000259150
RCV000294267
RCV000335482
RCV000296920
RCV000351562
RCV000386155
RCV001085422
RCV002345592
RCV003150040
dbSNP Id:
rs201489661
ExAC:
2:179428624 G / T
gnomAD v2:
2-179428624-G-T
gnomAD v3:
2-178563897-G-T
gnomAD v4:
2-178563897-G-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563897G>T , CM000664.2:g.178563897G>T | GRCh38 |
| NC_000002.11:g.179428624G>T , CM000664.1:g.179428624G>T | GRCh37 |
| NC_000002.10:g.179136870G>T | NCBI36 |
| NG_011618.3:g.271906C>A , LRG_391:g.271906C>A | |
| NG_051363.1:g.46071G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74531C>A (TTN) | ENSP00000343764.6:p.Thr24844Lys | |
| ENST00000342175.11:c.55616C>A (TTN) | ENSP00000340554.6:p.Thr18539Lys | |
| ENST00000359218.10:c.55415C>A (TTN) | ENSP00000352154.5:p.Thr18472Lys | |
| ENST00000342175.10:c.55616C>A (TTN) | ENSP00000340554.6:p.Thr18539Lys | |
| ENST00000342992.10:c.74531C>A (TTN) | ENSP00000343764.6:p.Thr24844Lys | |
| ENST00000359218.9:c.55415C>A (TTN) | ENSP00000352154.5:p.Thr18472Lys | |
| ENST00000460472.6:c.55040C>A (TTN) | ENSP00000434586.1:p.Thr18347Lys | |
| ENST00000589042.5:c.82235C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr27412Lys | |
| ENST00000591111.5:c.77312C>A (TTN) | ENSP00000465570.1:p.Thr25771Lys | |
| ENST00000615779.4:c.77312C>A (TTN) | ENSP00000483597.1:p.Thr25771Lys | |
| NM_001256850.1:c.77312C>A (TTN) | NP_001243779.1:p.Thr25771Lys | |
| NM_001267550.2:c.82235C>A (TTN) MANE Select | NP_001254479.2:p.Thr27412Lys | |
| NM_003319.4:c.55040C>A (TTN) | NP_003310.4:p.Thr18347Lys | |
| NM_133378.4:c.74531C>A (TTN) | NP_596869.4:p.Thr24844Lys | |
| NM_133432.3:c.55415C>A (TTN) | NP_597676.3:p.Thr18472Lys | |
| NM_133437.4:c.55616C>A (TTN) | NP_597681.4:p.Thr18539Lys | |
| NR_038271.1:n.447-7403G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-18675G>T (TTN-AS1) | ||
| XM_011511729.1:c.81332C>A (TTN) | XP_011510031.1:p.Thr27111Lys | |
| XM_011511730.1:c.55226C>A (TTN) | XP_011510032.1:p.Thr18409Lys | |
| XM_011511731.1:c.55085C>A (TTN) | XP_011510033.1:p.Thr18362Lys | |
| XM_017004819.1:c.81128C>A (TTN) | XP_016860308.1:p.Thr27043Lys | |
| XM_017004820.1:c.76526C>A (TTN) | XP_016860309.1:p.Thr25509Lys | |
| XM_017004821.1:c.76523C>A (TTN) | XP_016860310.1:p.Thr25508Lys | |
| XM_017004822.1:c.73565C>A (TTN) | XP_016860311.1:p.Thr24522Lys | |
| XM_017004823.1:c.55181C>A (TTN) | XP_016860312.1:p.Thr18394Lys | |
| XM_024453094.1:c.76676C>A (TTN) | XP_024308862.1:p.Thr25559Lys | |
| XM_024453095.1:c.76673C>A (TTN) | XP_024308863.1:p.Thr25558Lys | |
| XM_024453096.1:c.76106C>A (TTN) | XP_024308864.1:p.Thr25369Lys | |
| XM_024453097.1:c.73448C>A (TTN) | XP_024308865.1:p.Thr24483Lys | |
| XM_024453098.1:c.73367C>A (TTN) | XP_024308866.1:p.Thr24456Lys | |
| XM_024453099.1:c.55130C>A (TTN) | XP_024308867.1:p.Thr18377Lys | |
| XM_024453100.1:c.44984C>A (TTN) | XP_024308868.1:p.Thr14995Lys |