Linked Data
ClinVar Variation Id:
2581847
dbSNP Id:
rs938263270
gnomAD v2:
2-179402273-T-C
gnomAD v3:
2-178537546-T-C
gnomAD v4:
2-178537546-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537546T>C , CM000664.2:g.178537546T>C | GRCh38 |
| NC_000002.11:g.179402273T>C , CM000664.1:g.179402273T>C | GRCh37 |
| NC_000002.10:g.179110519T>C | NCBI36 |
| NG_011618.3:g.298257A>G , LRG_391:g.298257A>G | |
| NG_051363.1:g.19720T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91957A>G (TTN) | ENSP00000343764.6:p.Ile30653Val | |
| ENST00000342175.11:c.73042A>G (TTN) | ENSP00000340554.6:p.Ile24348Val | |
| ENST00000359218.10:c.72841A>G (TTN) | ENSP00000352154.5:p.Ile24281Val | |
| ENST00000342175.10:c.73042A>G (TTN) | ENSP00000340554.6:p.Ile24348Val | |
| ENST00000342992.10:c.91957A>G (TTN) | ENSP00000343764.6:p.Ile30653Val | |
| ENST00000359218.9:c.72841A>G (TTN) | ENSP00000352154.5:p.Ile24281Val | |
| ENST00000460472.6:c.72466A>G (TTN) | ENSP00000434586.1:p.Ile24156Val | |
| ENST00000589042.5:c.99661A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile33221Val | |
| ENST00000591111.5:c.94738A>G (TTN) | ENSP00000465570.1:p.Ile31580Val | |
| ENST00000615779.4:c.94738A>G (TTN) | ENSP00000483597.1:p.Ile31580Val | |
| NM_001256850.1:c.94738A>G (TTN) | NP_001243779.1:p.Ile31580Val | |
| NM_001267550.2:c.99661A>G (TTN) MANE Select | NP_001254479.2:p.Ile33221Val | |
| NM_003319.4:c.72466A>G (TTN) | NP_003310.4:p.Ile24156Val | |
| NM_133378.4:c.91957A>G (TTN) | NP_596869.4:p.Ile30653Val | |
| NM_133432.3:c.72841A>G (TTN) | NP_597676.3:p.Ile24281Val | |
| NM_133437.4:c.73042A>G (TTN) | NP_597681.4:p.Ile24348Val | |
| NR_038271.1:n.446+13910T>C (TTN-AS1) | ||
| NR_038272.1:n.502T>C (TTN-AS1) | ||
| XM_011511729.1:c.98758A>G (TTN) | XP_011510031.1:p.Ile32920Val | |
| XM_011511730.1:c.72652A>G (TTN) | XP_011510032.1:p.Ile24218Val | |
| XM_011511731.1:c.72511A>G (TTN) | XP_011510033.1:p.Ile24171Val | |
| XM_017004819.1:c.98554A>G (TTN) | XP_016860308.1:p.Ile32852Val | |
| XM_017004820.1:c.93952A>G (TTN) | XP_016860309.1:p.Ile31318Val | |
| XM_017004821.1:c.93949A>G (TTN) | XP_016860310.1:p.Ile31317Val | |
| XM_017004822.1:c.90991A>G (TTN) | XP_016860311.1:p.Ile30331Val | |
| XM_017004823.1:c.72607A>G (TTN) | XP_016860312.1:p.Ile24203Val | |
| XM_024453094.1:c.94102A>G (TTN) | XP_024308862.1:p.Ile31368Val | |
| XM_024453095.1:c.94099A>G (TTN) | XP_024308863.1:p.Ile31367Val | |
| XM_024453096.1:c.93532A>G (TTN) | XP_024308864.1:p.Ile31178Val | |
| XM_024453097.1:c.90874A>G (TTN) | XP_024308865.1:p.Ile30292Val | |
| XM_024453098.1:c.90793A>G (TTN) | XP_024308866.1:p.Ile30265Val | |
| XM_024453099.1:c.72556A>G (TTN) | XP_024308867.1:p.Ile24186Val | |
| XM_024453100.1:c.62410A>G (TTN) | XP_024308868.1:p.Ile20804Val |