Linked Data
ClinVar Variation Id:
47677
ClinVar RCV Id:
RCV000040946
RCV000233825
RCV000245559
RCV000272409
RCV000312358
RCV000366919
RCV000328153
RCV000364115
RCV000768825
RCV001529921
dbSNP Id:
rs56375087
ExAC:
2:179396573 T / G
gnomAD v2:
2-179396573-T-G
gnomAD v3:
2-178531846-T-G
gnomAD v4:
2-178531846-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531846T>G , CM000664.2:g.178531846T>G | GRCh38 |
| NC_000002.11:g.179396573T>G , CM000664.1:g.179396573T>G | GRCh37 |
| NC_000002.10:g.179104819T>G | NCBI36 |
| NG_011618.3:g.303957A>C , LRG_391:g.303957A>C | |
| NG_051363.1:g.14020T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97065A>C (TTN) | ENSP00000343764.6:p.Thr32355= | |
| ENST00000342175.11:c.78150A>C (TTN) | ENSP00000340554.6:p.Thr26050= | |
| ENST00000359218.10:c.77949A>C (TTN) | ENSP00000352154.5:p.Thr25983= | |
| ENST00000342175.10:c.78150A>C (TTN) | ENSP00000340554.6:p.Thr26050= | |
| ENST00000342992.10:c.97065A>C (TTN) | ENSP00000343764.6:p.Thr32355= | |
| ENST00000359218.9:c.77949A>C (TTN) | ENSP00000352154.5:p.Thr25983= | |
| ENST00000460472.6:c.77574A>C (TTN) | ENSP00000434586.1:p.Thr25858= | |
| ENST00000589042.5:c.104769A>C (TTN) MANE Select | ENSP00000467141.1:p.Thr34923= | |
| ENST00000591111.5:c.99846A>C (TTN) | ENSP00000465570.1:p.Thr33282= | |
| ENST00000615779.4:c.99846A>C (TTN) | ENSP00000483597.1:p.Thr33282= | |
| NM_001256850.1:c.99846A>C (TTN) | NP_001243779.1:p.Thr33282= | |
| NM_001267550.2:c.104769A>C (TTN) MANE Select | NP_001254479.2:p.Thr34923= | |
| NM_003319.4:c.77574A>C (TTN) | NP_003310.4:p.Thr25858= | |
| NM_133378.4:c.97065A>C (TTN) | NP_596869.4:p.Thr32355= | |
| NM_133432.3:c.77949A>C (TTN) | NP_597676.3:p.Thr25983= | |
| NM_133437.4:c.78150A>C (TTN) | NP_597681.4:p.Thr26050= | |
| NR_038271.1:n.446+8210T>G (TTN-AS1) | ||
| NR_038272.1:n.220-3886T>G (TTN-AS1) | ||
| XM_011511729.1:c.103866A>C (TTN) | XP_011510031.1:p.Thr34622= | |
| XM_011511730.1:c.77760A>C (TTN) | XP_011510032.1:p.Thr25920= | |
| XM_011511731.1:c.77619A>C (TTN) | XP_011510033.1:p.Thr25873= | |
| XM_017004819.1:c.103662A>C (TTN) | XP_016860308.1:p.Thr34554= | |
| XM_017004820.1:c.99060A>C (TTN) | XP_016860309.1:p.Thr33020= | |
| XM_017004821.1:c.99057A>C (TTN) | XP_016860310.1:p.Thr33019= | |
| XM_017004822.1:c.96099A>C (TTN) | XP_016860311.1:p.Thr32033= | |
| XM_017004823.1:c.77715A>C (TTN) | XP_016860312.1:p.Thr25905= | |
| XM_024453094.1:c.99210A>C (TTN) | XP_024308862.1:p.Thr33070= | |
| XM_024453095.1:c.99207A>C (TTN) | XP_024308863.1:p.Thr33069= | |
| XM_024453096.1:c.98640A>C (TTN) | XP_024308864.1:p.Thr32880= | |
| XM_024453097.1:c.95982A>C (TTN) | XP_024308865.1:p.Thr31994= | |
| XM_024453098.1:c.95901A>C (TTN) | XP_024308866.1:p.Thr31967= | |
| XM_024453099.1:c.77664A>C (TTN) | XP_024308867.1:p.Thr25888= | |
| XM_024453100.1:c.67518A>C (TTN) | XP_024308868.1:p.Thr22506= |