Linked Data
ClinVar Variation Id:
47441
dbSNP Id:
rs201674674
ExAC:
2:179425936 T / G
gnomAD v2:
2-179425936-T-G
gnomAD v3:
2-178561209-T-G
gnomAD v4:
2-178561209-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561209T>G , CM000664.2:g.178561209T>G | GRCh38 |
| NC_000002.11:g.179425936T>G , CM000664.1:g.179425936T>G | GRCh37 |
| NC_000002.10:g.179134182T>G | NCBI36 |
| NG_011618.3:g.274594A>C , LRG_391:g.274594A>C | |
| NG_051363.1:g.43383T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77219A>C (TTN) | ENSP00000343764.6:p.Gln25740Pro | |
| ENST00000342175.11:c.58304A>C (TTN) | ENSP00000340554.6:p.Gln19435Pro | |
| ENST00000359218.10:c.58103A>C (TTN) | ENSP00000352154.5:p.Gln19368Pro | |
| ENST00000342175.10:c.58304A>C (TTN) | ENSP00000340554.6:p.Gln19435Pro | |
| ENST00000342992.10:c.77219A>C (TTN) | ENSP00000343764.6:p.Gln25740Pro | |
| ENST00000359218.9:c.58103A>C (TTN) | ENSP00000352154.5:p.Gln19368Pro | |
| ENST00000460472.6:c.57728A>C (TTN) | ENSP00000434586.1:p.Gln19243Pro | |
| ENST00000589042.5:c.84923A>C (TTN) MANE Select | ENSP00000467141.1:p.Gln28308Pro | |
| ENST00000591111.5:c.80000A>C (TTN) | ENSP00000465570.1:p.Gln26667Pro | |
| ENST00000615779.4:c.80000A>C (TTN) | ENSP00000483597.1:p.Gln26667Pro | |
| NM_001256850.1:c.80000A>C (TTN) | NP_001243779.1:p.Gln26667Pro | |
| NM_001267550.2:c.84923A>C (TTN) MANE Select | NP_001254479.2:p.Gln28308Pro | |
| NM_003319.4:c.57728A>C (TTN) | NP_003310.4:p.Gln19243Pro | |
| NM_133378.4:c.77219A>C (TTN) | NP_596869.4:p.Gln25740Pro | |
| NM_133432.3:c.58103A>C (TTN) | NP_597676.3:p.Gln19368Pro | |
| NM_133437.4:c.58304A>C (TTN) | NP_597681.4:p.Gln19435Pro | |
| NR_038271.1:n.447-10091T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+18848T>G (TTN-AS1) | ||
| XM_011511729.1:c.84020A>C (TTN) | XP_011510031.1:p.Gln28007Pro | |
| XM_011511730.1:c.57914A>C (TTN) | XP_011510032.1:p.Gln19305Pro | |
| XM_011511731.1:c.57773A>C (TTN) | XP_011510033.1:p.Gln19258Pro | |
| XM_017004819.1:c.83816A>C (TTN) | XP_016860308.1:p.Gln27939Pro | |
| XM_017004820.1:c.79214A>C (TTN) | XP_016860309.1:p.Gln26405Pro | |
| XM_017004821.1:c.79211A>C (TTN) | XP_016860310.1:p.Gln26404Pro | |
| XM_017004822.1:c.76253A>C (TTN) | XP_016860311.1:p.Gln25418Pro | |
| XM_017004823.1:c.57869A>C (TTN) | XP_016860312.1:p.Gln19290Pro | |
| XM_024453094.1:c.79364A>C (TTN) | XP_024308862.1:p.Gln26455Pro | |
| XM_024453095.1:c.79361A>C (TTN) | XP_024308863.1:p.Gln26454Pro | |
| XM_024453096.1:c.78794A>C (TTN) | XP_024308864.1:p.Gln26265Pro | |
| XM_024453097.1:c.76136A>C (TTN) | XP_024308865.1:p.Gln25379Pro | |
| XM_024453098.1:c.76055A>C (TTN) | XP_024308866.1:p.Gln25352Pro | |
| XM_024453099.1:c.57818A>C (TTN) | XP_024308867.1:p.Gln19273Pro | |
| XM_024453100.1:c.47672A>C (TTN) | XP_024308868.1:p.Gln15891Pro |