Linked Data
ClinVar Variation Id:
47641
ClinVar RCV Id:
RCV000040910
RCV000233206
RCV000245404
RCV000289503
RCV000344458
RCV000341092
RCV000388677
RCV000393835
RCV000769856
RCV000852779
RCV001085578
dbSNP Id:
rs55886356
ExAC:
2:179399576 C / G
gnomAD v2:
2-179399576-C-G
gnomAD v3:
2-178534849-C-G
gnomAD v4:
2-178534849-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534849C>G , CM000664.2:g.178534849C>G | GRCh38 |
| NC_000002.11:g.179399576C>G , CM000664.1:g.179399576C>G | GRCh37 |
| NC_000002.10:g.179107822C>G | NCBI36 |
| NG_011618.3:g.300954G>C , LRG_391:g.300954G>C | |
| NG_051363.1:g.17023C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94062G>C (TTN) | ENSP00000343764.6:p.Gln31354His | |
| ENST00000342175.11:c.75147G>C (TTN) | ENSP00000340554.6:p.Gln25049His | |
| ENST00000359218.10:c.74946G>C (TTN) | ENSP00000352154.5:p.Gln24982His | |
| ENST00000342175.10:c.75147G>C (TTN) | ENSP00000340554.6:p.Gln25049His | |
| ENST00000342992.10:c.94062G>C (TTN) | ENSP00000343764.6:p.Gln31354His | |
| ENST00000359218.9:c.74946G>C (TTN) | ENSP00000352154.5:p.Gln24982His | |
| ENST00000460472.6:c.74571G>C (TTN) | ENSP00000434586.1:p.Gln24857His | |
| ENST00000589042.5:c.101766G>C (TTN) MANE Select | ENSP00000467141.1:p.Gln33922His | |
| ENST00000591111.5:c.96843G>C (TTN) | ENSP00000465570.1:p.Gln32281His | |
| ENST00000615779.4:c.96843G>C (TTN) | ENSP00000483597.1:p.Gln32281His | |
| NM_001256850.1:c.96843G>C (TTN) | NP_001243779.1:p.Gln32281His | |
| NM_001267550.2:c.101766G>C (TTN) MANE Select | NP_001254479.2:p.Gln33922His | |
| NM_003319.4:c.74571G>C (TTN) | NP_003310.4:p.Gln24857His | |
| NM_133378.4:c.94062G>C (TTN) | NP_596869.4:p.Gln31354His | |
| NM_133432.3:c.74946G>C (TTN) | NP_597676.3:p.Gln24982His | |
| NM_133437.4:c.75147G>C (TTN) | NP_597681.4:p.Gln25049His | |
| NR_038271.1:n.446+11213C>G (TTN-AS1) | ||
| NR_038272.1:n.220-883C>G (TTN-AS1) | ||
| XM_011511729.1:c.100863G>C (TTN) | XP_011510031.1:p.Gln33621His | |
| XM_011511730.1:c.74757G>C (TTN) | XP_011510032.1:p.Gln24919His | |
| XM_011511731.1:c.74616G>C (TTN) | XP_011510033.1:p.Gln24872His | |
| XM_017004819.1:c.100659G>C (TTN) | XP_016860308.1:p.Gln33553His | |
| XM_017004820.1:c.96057G>C (TTN) | XP_016860309.1:p.Gln32019His | |
| XM_017004821.1:c.96054G>C (TTN) | XP_016860310.1:p.Gln32018His | |
| XM_017004822.1:c.93096G>C (TTN) | XP_016860311.1:p.Gln31032His | |
| XM_017004823.1:c.74712G>C (TTN) | XP_016860312.1:p.Gln24904His | |
| XM_024453094.1:c.96207G>C (TTN) | XP_024308862.1:p.Gln32069His | |
| XM_024453095.1:c.96204G>C (TTN) | XP_024308863.1:p.Gln32068His | |
| XM_024453096.1:c.95637G>C (TTN) | XP_024308864.1:p.Gln31879His | |
| XM_024453097.1:c.92979G>C (TTN) | XP_024308865.1:p.Gln30993His | |
| XM_024453098.1:c.92898G>C (TTN) | XP_024308866.1:p.Gln30966His | |
| XM_024453099.1:c.74661G>C (TTN) | XP_024308867.1:p.Gln24887His | |
| XM_024453100.1:c.64515G>C (TTN) | XP_024308868.1:p.Gln21505His |