Linked Data
ClinVar Variation Id:
501103
dbSNP Id:
rs770499179
ExAC:
2:179465847 G / C
gnomAD v2:
2-179465847-G-C
gnomAD v3:
2-178601120-G-C
gnomAD v4:
2-178601120-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601120G>C , CM000664.2:g.178601120G>C | GRCh38 |
| NC_000002.11:g.179465847G>C , CM000664.1:g.179465847G>C | GRCh37 |
| NC_000002.10:g.179174092G>C | NCBI36 |
| NG_011618.3:g.234683C>G , LRG_391:g.234683C>G | |
| NG_051363.1:g.83294G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48080C>G (TTN) | ENSP00000343764.6:p.Thr16027Arg | |
| ENST00000342175.11:c.29165C>G (TTN) | ENSP00000340554.6:p.Thr9722Arg | |
| ENST00000359218.10:c.28964C>G (TTN) | ENSP00000352154.5:p.Thr9655Arg | |
| ENST00000342175.10:c.29165C>G (TTN) | ENSP00000340554.6:p.Thr9722Arg | |
| ENST00000342992.10:c.48080C>G (TTN) | ENSP00000343764.6:p.Thr16027Arg | |
| ENST00000359218.9:c.28964C>G (TTN) | ENSP00000352154.5:p.Thr9655Arg | |
| ENST00000460472.6:c.28589C>G (TTN) | ENSP00000434586.1:p.Thr9530Arg | |
| ENST00000589042.5:c.55784C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr18595Arg | |
| ENST00000591111.5:c.50861C>G (TTN) | ENSP00000465570.1:p.Thr16954Arg | |
| ENST00000615779.4:c.50861C>G (TTN) | ENSP00000483597.1:p.Thr16954Arg | |
| NM_001256850.1:c.50861C>G (TTN) | NP_001243779.1:p.Thr16954Arg | |
| NM_001267550.2:c.55784C>G (TTN) MANE Select | NP_001254479.2:p.Thr18595Arg | |
| NM_003319.4:c.28589C>G (TTN) | NP_003310.4:p.Thr9530Arg | |
| NM_133378.4:c.48080C>G (TTN) | NP_596869.4:p.Thr16027Arg | |
| NM_133432.3:c.28964C>G (TTN) | NP_597676.3:p.Thr9655Arg | |
| NM_133437.4:c.29165C>G (TTN) | NP_597681.4:p.Thr9722Arg | |
| NR_038271.1:n.682+3439G>C (TTN-AS1) | ||
| NR_038272.1:n.3917+453G>C (TTN-AS1) | ||
| XM_011511729.1:c.54881C>G (TTN) | XP_011510031.1:p.Thr18294Arg | |
| XM_011511730.1:c.28775C>G (TTN) | XP_011510032.1:p.Thr9592Arg | |
| XM_011511731.1:c.28634C>G (TTN) | XP_011510033.1:p.Thr9545Arg | |
| XM_017004819.1:c.54677C>G (TTN) | XP_016860308.1:p.Thr18226Arg | |
| XM_017004820.1:c.50075C>G (TTN) | XP_016860309.1:p.Thr16692Arg | |
| XM_017004821.1:c.50072C>G (TTN) | XP_016860310.1:p.Thr16691Arg | |
| XM_017004822.1:c.47114C>G (TTN) | XP_016860311.1:p.Thr15705Arg | |
| XM_017004823.1:c.28730C>G (TTN) | XP_016860312.1:p.Thr9577Arg | |
| XM_024453094.1:c.50225C>G (TTN) | XP_024308862.1:p.Thr16742Arg | |
| XM_024453095.1:c.50222C>G (TTN) | XP_024308863.1:p.Thr16741Arg | |
| XM_024453096.1:c.49655C>G (TTN) | XP_024308864.1:p.Thr16552Arg | |
| XM_024453097.1:c.46997C>G (TTN) | XP_024308865.1:p.Thr15666Arg | |
| XM_024453098.1:c.46916C>G (TTN) | XP_024308866.1:p.Thr15639Arg | |
| XM_024453099.1:c.28679C>G (TTN) | XP_024308867.1:p.Thr9560Arg | |
| XM_024453100.1:c.18533C>G (TTN) | XP_024308868.1:p.Thr6178Arg |