Linked Data
ClinVar Variation Id:
192203
ClinVar RCV Id:
RCV000172788
RCV000643377
RCV001133152
RCV001133153
RCV001133154
RCV001133155
RCV001133156
RCV001697169
dbSNP Id:
rs3731746
ExAC:
2:179430997 G / T
gnomAD v2:
2-179430997-G-T
gnomAD v3:
2-178566270-G-T
gnomAD v4:
2-178566270-G-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566270G>T , CM000664.2:g.178566270G>T | GRCh38 |
| NC_000002.11:g.179430997G>T , CM000664.1:g.179430997G>T | GRCh37 |
| NC_000002.10:g.179139243G>T | NCBI36 |
| NG_011618.3:g.269533C>A , LRG_391:g.269533C>A | |
| NG_051363.1:g.48444G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72158C>A (TTN) | ENSP00000343764.6:p.Thr24053Lys | |
| ENST00000342175.11:c.53243C>A (TTN) | ENSP00000340554.6:p.Thr17748Lys | |
| ENST00000359218.10:c.53042C>A (TTN) | ENSP00000352154.5:p.Thr17681Lys | |
| ENST00000342175.10:c.53243C>A (TTN) | ENSP00000340554.6:p.Thr17748Lys | |
| ENST00000342992.10:c.72158C>A (TTN) | ENSP00000343764.6:p.Thr24053Lys | |
| ENST00000359218.9:c.53042C>A (TTN) | ENSP00000352154.5:p.Thr17681Lys | |
| ENST00000460472.6:c.52667C>A (TTN) | ENSP00000434586.1:p.Thr17556Lys | |
| ENST00000589042.5:c.79862C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr26621Lys | |
| ENST00000591111.5:c.74939C>A (TTN) | ENSP00000465570.1:p.Thr24980Lys | |
| ENST00000615779.4:c.74939C>A (TTN) | ENSP00000483597.1:p.Thr24980Lys | |
| NM_001256850.1:c.74939C>A (TTN) | NP_001243779.1:p.Thr24980Lys | |
| NM_001267550.2:c.79862C>A (TTN) MANE Select | NP_001254479.2:p.Thr26621Lys | |
| NM_003319.4:c.52667C>A (TTN) | NP_003310.4:p.Thr17556Lys | |
| NM_133378.4:c.72158C>A (TTN) | NP_596869.4:p.Thr24053Lys | |
| NM_133432.3:c.53042C>A (TTN) | NP_597676.3:p.Thr17681Lys | |
| NM_133437.4:c.53243C>A (TTN) | NP_597681.4:p.Thr17748Lys | |
| NR_038271.1:n.447-5030G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-16302G>T (TTN-AS1) | ||
| XM_011511729.1:c.78959C>A (TTN) | XP_011510031.1:p.Thr26320Lys | |
| XM_011511730.1:c.52853C>A (TTN) | XP_011510032.1:p.Thr17618Lys | |
| XM_011511731.1:c.52712C>A (TTN) | XP_011510033.1:p.Thr17571Lys | |
| XM_017004819.1:c.78755C>A (TTN) | XP_016860308.1:p.Thr26252Lys | |
| XM_017004820.1:c.74153C>A (TTN) | XP_016860309.1:p.Thr24718Lys | |
| XM_017004821.1:c.74150C>A (TTN) | XP_016860310.1:p.Thr24717Lys | |
| XM_017004822.1:c.71192C>A (TTN) | XP_016860311.1:p.Thr23731Lys | |
| XM_017004823.1:c.52808C>A (TTN) | XP_016860312.1:p.Thr17603Lys | |
| XM_024453094.1:c.74303C>A (TTN) | XP_024308862.1:p.Thr24768Lys | |
| XM_024453095.1:c.74300C>A (TTN) | XP_024308863.1:p.Thr24767Lys | |
| XM_024453096.1:c.73733C>A (TTN) | XP_024308864.1:p.Thr24578Lys | |
| XM_024453097.1:c.71075C>A (TTN) | XP_024308865.1:p.Thr23692Lys | |
| XM_024453098.1:c.70994C>A (TTN) | XP_024308866.1:p.Thr23665Lys | |
| XM_024453099.1:c.52757C>A (TTN) | XP_024308867.1:p.Thr17586Lys | |
| XM_024453100.1:c.42611C>A (TTN) | XP_024308868.1:p.Thr14204Lys |