Linked Data
ClinVar Variation Id:
404889
dbSNP Id:
rs761644963
ExAC:
2:179397315 G / C
gnomAD v2:
2-179397315-G-C
gnomAD v4:
2-178532588-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532588G>C , CM000664.2:g.178532588G>C | GRCh38 |
| NC_000002.11:g.179397315G>C , CM000664.1:g.179397315G>C | GRCh37 |
| NC_000002.10:g.179105561G>C | NCBI36 |
| NG_011618.3:g.303215C>G , LRG_391:g.303215C>G | |
| NG_051363.1:g.14762G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96323C>G (TTN) | ENSP00000343764.6:p.Thr32108Arg | |
| ENST00000342175.11:c.77408C>G (TTN) | ENSP00000340554.6:p.Thr25803Arg | |
| ENST00000359218.10:c.77207C>G (TTN) | ENSP00000352154.5:p.Thr25736Arg | |
| ENST00000342175.10:c.77408C>G (TTN) | ENSP00000340554.6:p.Thr25803Arg | |
| ENST00000342992.10:c.96323C>G (TTN) | ENSP00000343764.6:p.Thr32108Arg | |
| ENST00000359218.9:c.77207C>G (TTN) | ENSP00000352154.5:p.Thr25736Arg | |
| ENST00000460472.6:c.76832C>G (TTN) | ENSP00000434586.1:p.Thr25611Arg | |
| ENST00000589042.5:c.104027C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr34676Arg | |
| ENST00000591111.5:c.99104C>G (TTN) | ENSP00000465570.1:p.Thr33035Arg | |
| ENST00000615779.4:c.99104C>G (TTN) | ENSP00000483597.1:p.Thr33035Arg | |
| NM_001256850.1:c.99104C>G (TTN) | NP_001243779.1:p.Thr33035Arg | |
| NM_001267550.2:c.104027C>G (TTN) MANE Select | NP_001254479.2:p.Thr34676Arg | |
| NM_003319.4:c.76832C>G (TTN) | NP_003310.4:p.Thr25611Arg | |
| NM_133378.4:c.96323C>G (TTN) | NP_596869.4:p.Thr32108Arg | |
| NM_133432.3:c.77207C>G (TTN) | NP_597676.3:p.Thr25736Arg | |
| NM_133437.4:c.77408C>G (TTN) | NP_597681.4:p.Thr25803Arg | |
| NR_038271.1:n.446+8952G>C (TTN-AS1) | ||
| NR_038272.1:n.220-3144G>C (TTN-AS1) | ||
| XM_011511729.1:c.103124C>G (TTN) | XP_011510031.1:p.Thr34375Arg | |
| XM_011511730.1:c.77018C>G (TTN) | XP_011510032.1:p.Thr25673Arg | |
| XM_011511731.1:c.76877C>G (TTN) | XP_011510033.1:p.Thr25626Arg | |
| XM_017004819.1:c.102920C>G (TTN) | XP_016860308.1:p.Thr34307Arg | |
| XM_017004820.1:c.98318C>G (TTN) | XP_016860309.1:p.Thr32773Arg | |
| XM_017004821.1:c.98315C>G (TTN) | XP_016860310.1:p.Thr32772Arg | |
| XM_017004822.1:c.95357C>G (TTN) | XP_016860311.1:p.Thr31786Arg | |
| XM_017004823.1:c.76973C>G (TTN) | XP_016860312.1:p.Thr25658Arg | |
| XM_024453094.1:c.98468C>G (TTN) | XP_024308862.1:p.Thr32823Arg | |
| XM_024453095.1:c.98465C>G (TTN) | XP_024308863.1:p.Thr32822Arg | |
| XM_024453096.1:c.97898C>G (TTN) | XP_024308864.1:p.Thr32633Arg | |
| XM_024453097.1:c.95240C>G (TTN) | XP_024308865.1:p.Thr31747Arg | |
| XM_024453098.1:c.95159C>G (TTN) | XP_024308866.1:p.Thr31720Arg | |
| XM_024453099.1:c.76922C>G (TTN) | XP_024308867.1:p.Thr25641Arg | |
| XM_024453100.1:c.66776C>G (TTN) | XP_024308868.1:p.Thr22259Arg |