Linked Data
ClinVar Variation Id:
404628
ClinVar RCV Id:
RCV000471780
dbSNP Id:
rs558954116
ExAC:
2:179401818 G / T
gnomAD v2:
2-179401818-G-T
gnomAD v3:
2-178537091-G-T
gnomAD v4:
2-178537091-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537091G>T , CM000664.2:g.178537091G>T | GRCh38 |
| NC_000002.11:g.179401818G>T , CM000664.1:g.179401818G>T | GRCh37 |
| NC_000002.10:g.179110064G>T | NCBI36 |
| NG_011618.3:g.298712C>A , LRG_391:g.298712C>A | |
| NG_051363.1:g.19265G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92314C>A (TTN) | ENSP00000343764.6:p.Gln30772Lys | |
| ENST00000342175.11:c.73399C>A (TTN) | ENSP00000340554.6:p.Gln24467Lys | |
| ENST00000359218.10:c.73198C>A (TTN) | ENSP00000352154.5:p.Gln24400Lys | |
| ENST00000342175.10:c.73399C>A (TTN) | ENSP00000340554.6:p.Gln24467Lys | |
| ENST00000342992.10:c.92314C>A (TTN) | ENSP00000343764.6:p.Gln30772Lys | |
| ENST00000359218.9:c.73198C>A (TTN) | ENSP00000352154.5:p.Gln24400Lys | |
| ENST00000460472.6:c.72823C>A (TTN) | ENSP00000434586.1:p.Gln24275Lys | |
| ENST00000589042.5:c.100018C>A (TTN) MANE Select | ENSP00000467141.1:p.Gln33340Lys | |
| ENST00000591111.5:c.95095C>A (TTN) | ENSP00000465570.1:p.Gln31699Lys | |
| ENST00000615779.4:c.95095C>A (TTN) | ENSP00000483597.1:p.Gln31699Lys | |
| NM_001256850.1:c.95095C>A (TTN) | NP_001243779.1:p.Gln31699Lys | |
| NM_001267550.2:c.100018C>A (TTN) MANE Select | NP_001254479.2:p.Gln33340Lys | |
| NM_003319.4:c.72823C>A (TTN) | NP_003310.4:p.Gln24275Lys | |
| NM_133378.4:c.92314C>A (TTN) | NP_596869.4:p.Gln30772Lys | |
| NM_133432.3:c.73198C>A (TTN) | NP_597676.3:p.Gln24400Lys | |
| NM_133437.4:c.73399C>A (TTN) | NP_597681.4:p.Gln24467Lys | |
| NR_038271.1:n.446+13455G>T (TTN-AS1) | ||
| NR_038272.1:n.317-270G>T (TTN-AS1) | ||
| XM_011511729.1:c.99115C>A (TTN) | XP_011510031.1:p.Gln33039Lys | |
| XM_011511730.1:c.73009C>A (TTN) | XP_011510032.1:p.Gln24337Lys | |
| XM_011511731.1:c.72868C>A (TTN) | XP_011510033.1:p.Gln24290Lys | |
| XM_017004819.1:c.98911C>A (TTN) | XP_016860308.1:p.Gln32971Lys | |
| XM_017004820.1:c.94309C>A (TTN) | XP_016860309.1:p.Gln31437Lys | |
| XM_017004821.1:c.94306C>A (TTN) | XP_016860310.1:p.Gln31436Lys | |
| XM_017004822.1:c.91348C>A (TTN) | XP_016860311.1:p.Gln30450Lys | |
| XM_017004823.1:c.72964C>A (TTN) | XP_016860312.1:p.Gln24322Lys | |
| XM_024453094.1:c.94459C>A (TTN) | XP_024308862.1:p.Gln31487Lys | |
| XM_024453095.1:c.94456C>A (TTN) | XP_024308863.1:p.Gln31486Lys | |
| XM_024453096.1:c.93889C>A (TTN) | XP_024308864.1:p.Gln31297Lys | |
| XM_024453097.1:c.91231C>A (TTN) | XP_024308865.1:p.Gln30411Lys | |
| XM_024453098.1:c.91150C>A (TTN) | XP_024308866.1:p.Gln30384Lys | |
| XM_024453099.1:c.72913C>A (TTN) | XP_024308867.1:p.Gln24305Lys | |
| XM_024453100.1:c.62767C>A (TTN) | XP_024308868.1:p.Gln20923Lys |