Linked Data
ClinVar Variation Id:
180019
ClinVar RCV Id:
RCV000156822
RCV000338432
RCV000279104
RCV000406384
RCV000407419
RCV000312780
RCV000714039
RCV001087961
RCV001798523
RCV004544459
dbSNP Id:
rs368057764
ExAC:
2:179483430 G / A
gnomAD v2:
2-179483430-G-A
gnomAD v3:
2-178618703-G-A
gnomAD v4:
2-178618703-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618703G>A , CM000664.2:g.178618703G>A | GRCh38 |
| NC_000002.11:g.179483430G>A , CM000664.1:g.179483430G>A | GRCh37 |
| NC_000002.10:g.179191675G>A | NCBI36 |
| NG_011618.3:g.217100C>T , LRG_391:g.217100C>T | |
| NG_051363.1:g.100877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39143C>T (TTN) | ENSP00000343764.6:p.Thr13048Met | |
| ENST00000342175.11:c.20228C>T (TTN) | ENSP00000340554.6:p.Thr6743Met | |
| ENST00000359218.10:c.20027C>T (TTN) | ENSP00000352154.5:p.Thr6676Met | |
| ENST00000342175.10:c.20228C>T (TTN) | ENSP00000340554.6:p.Thr6743Met | |
| ENST00000342992.10:c.39143C>T (TTN) | ENSP00000343764.6:p.Thr13048Met | |
| ENST00000359218.9:c.20027C>T (TTN) | ENSP00000352154.5:p.Thr6676Met | |
| ENST00000460472.6:c.19652C>T (TTN) | ENSP00000434586.1:p.Thr6551Met | |
| ENST00000589042.5:c.46847C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr15616Met | |
| ENST00000591111.5:c.41924C>T (TTN) | ENSP00000465570.1:p.Thr13975Met | |
| ENST00000615779.4:c.41924C>T (TTN) | ENSP00000483597.1:p.Thr13975Met | |
| NM_001256850.1:c.41924C>T (TTN) | NP_001243779.1:p.Thr13975Met | |
| NM_001267550.2:c.46847C>T (TTN) MANE Select | NP_001254479.2:p.Thr15616Met | |
| NM_003319.4:c.19652C>T (TTN) | NP_003310.4:p.Thr6551Met | |
| NM_133378.4:c.39143C>T (TTN) | NP_596869.4:p.Thr13048Met | |
| NM_133432.3:c.20027C>T (TTN) | NP_597676.3:p.Thr6676Met | |
| NM_133437.4:c.20228C>T (TTN) | NP_597681.4:p.Thr6743Met | |
| NR_038271.1:n.1605-1050G>A (TTN-AS1) | ||
| XM_011511729.1:c.45944C>T (TTN) | XP_011510031.1:p.Thr15315Met | |
| XM_011511730.1:c.19838C>T (TTN) | XP_011510032.1:p.Thr6613Met | |
| XM_011511731.1:c.19697C>T (TTN) | XP_011510033.1:p.Thr6566Met | |
| XM_017004819.1:c.45740C>T (TTN) | XP_016860308.1:p.Thr15247Met | |
| XM_017004820.1:c.41138C>T (TTN) | XP_016860309.1:p.Thr13713Met | |
| XM_017004821.1:c.41135C>T (TTN) | XP_016860310.1:p.Thr13712Met | |
| XM_017004822.1:c.38177C>T (TTN) | XP_016860311.1:p.Thr12726Met | |
| XM_017004823.1:c.19793C>T (TTN) | XP_016860312.1:p.Thr6598Met | |
| XM_024453094.1:c.41288C>T (TTN) | XP_024308862.1:p.Thr13763Met | |
| XM_024453095.1:c.41285C>T (TTN) | XP_024308863.1:p.Thr13762Met | |
| XM_024453096.1:c.40718C>T (TTN) | XP_024308864.1:p.Thr13573Met | |
| XM_024453097.1:c.38060C>T (TTN) | XP_024308865.1:p.Thr12687Met | |
| XM_024453098.1:c.37979C>T (TTN) | XP_024308866.1:p.Thr12660Met | |
| XM_024453099.1:c.19742C>T (TTN) | XP_024308867.1:p.Thr6581Met | |
| XM_024453100.1:c.9596C>T (TTN) | XP_024308868.1:p.Thr3199Met |