Linked Data
ClinVar Variation Id:
202853
ClinVar RCV Id:
RCV000184811
RCV000469626
RCV000734356
RCV001132750
RCV001131758
RCV001131759
RCV001131760
RCV001131761
RCV002336485
dbSNP Id:
rs55713856
ExAC:
2:179436715 G / A
gnomAD v2:
2-179436715-G-A
gnomAD v3:
2-178571988-G-A
gnomAD v4:
2-178571988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571988G>A , CM000664.2:g.178571988G>A | GRCh38 |
| NC_000002.11:g.179436715G>A , CM000664.1:g.179436715G>A | GRCh37 |
| NC_000002.10:g.179144961G>A | NCBI36 |
| NG_011618.3:g.263815C>T , LRG_391:g.263815C>T | |
| NG_051363.1:g.54162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66440C>T (TTN) | ENSP00000343764.6:p.Pro22147Leu | |
| ENST00000342175.11:c.47525C>T (TTN) | ENSP00000340554.6:p.Pro15842Leu | |
| ENST00000359218.10:c.47324C>T (TTN) | ENSP00000352154.5:p.Pro15775Leu | |
| ENST00000342175.10:c.47525C>T (TTN) | ENSP00000340554.6:p.Pro15842Leu | |
| ENST00000342992.10:c.66440C>T (TTN) | ENSP00000343764.6:p.Pro22147Leu | |
| ENST00000359218.9:c.47324C>T (TTN) | ENSP00000352154.5:p.Pro15775Leu | |
| ENST00000460472.6:c.46949C>T (TTN) | ENSP00000434586.1:p.Pro15650Leu | |
| ENST00000589042.5:c.74144C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro24715Leu | |
| ENST00000591111.5:c.69221C>T (TTN) | ENSP00000465570.1:p.Pro23074Leu | |
| ENST00000615779.4:c.69221C>T (TTN) | ENSP00000483597.1:p.Pro23074Leu | |
| NM_001256850.1:c.69221C>T (TTN) | NP_001243779.1:p.Pro23074Leu | |
| NM_001267550.2:c.74144C>T (TTN) MANE Select | NP_001254479.2:p.Pro24715Leu | |
| NM_003319.4:c.46949C>T (TTN) | NP_003310.4:p.Pro15650Leu | |
| NM_133378.4:c.66440C>T (TTN) | NP_596869.4:p.Pro22147Leu | |
| NM_133432.3:c.47324C>T (TTN) | NP_597676.3:p.Pro15775Leu | |
| NM_133437.4:c.47525C>T (TTN) | NP_597681.4:p.Pro15842Leu | |
| NR_038271.1:n.596+539G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-10584G>A (TTN-AS1) | ||
| XM_011511729.1:c.73241C>T (TTN) | XP_011510031.1:p.Pro24414Leu | |
| XM_011511730.1:c.47135C>T (TTN) | XP_011510032.1:p.Pro15712Leu | |
| XM_011511731.1:c.46994C>T (TTN) | XP_011510033.1:p.Pro15665Leu | |
| XM_017004819.1:c.73037C>T (TTN) | XP_016860308.1:p.Pro24346Leu | |
| XM_017004820.1:c.68435C>T (TTN) | XP_016860309.1:p.Pro22812Leu | |
| XM_017004821.1:c.68432C>T (TTN) | XP_016860310.1:p.Pro22811Leu | |
| XM_017004822.1:c.65474C>T (TTN) | XP_016860311.1:p.Pro21825Leu | |
| XM_017004823.1:c.47090C>T (TTN) | XP_016860312.1:p.Pro15697Leu | |
| XM_024453094.1:c.68585C>T (TTN) | XP_024308862.1:p.Pro22862Leu | |
| XM_024453095.1:c.68582C>T (TTN) | XP_024308863.1:p.Pro22861Leu | |
| XM_024453096.1:c.68015C>T (TTN) | XP_024308864.1:p.Pro22672Leu | |
| XM_024453097.1:c.65357C>T (TTN) | XP_024308865.1:p.Pro21786Leu | |
| XM_024453098.1:c.65276C>T (TTN) | XP_024308866.1:p.Pro21759Leu | |
| XM_024453099.1:c.47039C>T (TTN) | XP_024308867.1:p.Pro15680Leu | |
| XM_024453100.1:c.36893C>T (TTN) | XP_024308868.1:p.Pro12298Leu |