Linked Data
dbSNP Id:
rs755545981
ExAC:
2:179408659 A / G
gnomAD v2:
2-179408659-A-G
gnomAD v3:
2-178543932-A-G
gnomAD v4:
2-178543932-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543932A>G , CM000664.2:g.178543932A>G | GRCh38 |
| NC_000002.11:g.179408659A>G , CM000664.1:g.179408659A>G | GRCh37 |
| NC_000002.10:g.179116905A>G | NCBI36 |
| NG_011618.3:g.291871T>C , LRG_391:g.291871T>C | |
| NG_051363.1:g.26106A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88508T>C (TTN) | ENSP00000343764.6:p.Ile29503Thr | |
| ENST00000342175.11:c.69593T>C (TTN) | ENSP00000340554.6:p.Ile23198Thr | |
| ENST00000359218.10:c.69392T>C (TTN) | ENSP00000352154.5:p.Ile23131Thr | |
| ENST00000342175.10:c.69593T>C (TTN) | ENSP00000340554.6:p.Ile23198Thr | |
| ENST00000342992.10:c.88508T>C (TTN) | ENSP00000343764.6:p.Ile29503Thr | |
| ENST00000359218.9:c.69392T>C (TTN) | ENSP00000352154.5:p.Ile23131Thr | |
| ENST00000460472.6:c.69017T>C (TTN) | ENSP00000434586.1:p.Ile23006Thr | |
| ENST00000589042.5:c.96212T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile32071Thr | |
| ENST00000591111.5:c.91289T>C (TTN) | ENSP00000465570.1:p.Ile30430Thr | |
| ENST00000615779.4:c.91289T>C (TTN) | ENSP00000483597.1:p.Ile30430Thr | |
| NM_001256850.1:c.91289T>C (TTN) | NP_001243779.1:p.Ile30430Thr | |
| NM_001267550.2:c.96212T>C (TTN) MANE Select | NP_001254479.2:p.Ile32071Thr | |
| NM_003319.4:c.69017T>C (TTN) | NP_003310.4:p.Ile23006Thr | |
| NM_133378.4:c.88508T>C (TTN) | NP_596869.4:p.Ile29503Thr | |
| NM_133432.3:c.69392T>C (TTN) | NP_597676.3:p.Ile23131Thr | |
| NM_133437.4:c.69593T>C (TTN) | NP_597681.4:p.Ile23198Thr | |
| NR_038271.1:n.446+20296A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+1571A>G (TTN-AS1) | ||
| XM_011511729.1:c.95309T>C (TTN) | XP_011510031.1:p.Ile31770Thr | |
| XM_011511730.1:c.69203T>C (TTN) | XP_011510032.1:p.Ile23068Thr | |
| XM_011511731.1:c.69062T>C (TTN) | XP_011510033.1:p.Ile23021Thr | |
| XM_017004819.1:c.95105T>C (TTN) | XP_016860308.1:p.Ile31702Thr | |
| XM_017004820.1:c.90503T>C (TTN) | XP_016860309.1:p.Ile30168Thr | |
| XM_017004821.1:c.90500T>C (TTN) | XP_016860310.1:p.Ile30167Thr | |
| XM_017004822.1:c.87542T>C (TTN) | XP_016860311.1:p.Ile29181Thr | |
| XM_017004823.1:c.69158T>C (TTN) | XP_016860312.1:p.Ile23053Thr | |
| XM_024453094.1:c.90653T>C (TTN) | XP_024308862.1:p.Ile30218Thr | |
| XM_024453095.1:c.90650T>C (TTN) | XP_024308863.1:p.Ile30217Thr | |
| XM_024453096.1:c.90083T>C (TTN) | XP_024308864.1:p.Ile30028Thr | |
| XM_024453097.1:c.87425T>C (TTN) | XP_024308865.1:p.Ile29142Thr | |
| XM_024453098.1:c.87344T>C (TTN) | XP_024308866.1:p.Ile29115Thr | |
| XM_024453099.1:c.69107T>C (TTN) | XP_024308867.1:p.Ile23036Thr | |
| XM_024453100.1:c.58961T>C (TTN) | XP_024308868.1:p.Ile19654Thr |