Linked Data
ClinVar Variation Id:
191861
dbSNP Id:
rs786205371
gnomAD v2:
2-179419287-G-C
gnomAD v3:
2-178554560-G-C
gnomAD v4:
2-178554560-G-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554560G>C , CM000664.2:g.178554560G>C | GRCh38 |
| NC_000002.11:g.179419287G>C , CM000664.1:g.179419287G>C | GRCh37 |
| NC_000002.10:g.179127533G>C | NCBI36 |
| NG_011618.3:g.281243C>G , LRG_391:g.281243C>G | |
| NG_051363.1:g.36734G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81083C>G (TTN) | ENSP00000343764.6:p.Thr27028Ser | |
| ENST00000342175.11:c.62168C>G (TTN) | ENSP00000340554.6:p.Thr20723Ser | |
| ENST00000359218.10:c.61967C>G (TTN) | ENSP00000352154.5:p.Thr20656Ser | |
| ENST00000342175.10:c.62168C>G (TTN) | ENSP00000340554.6:p.Thr20723Ser | |
| ENST00000342992.10:c.81083C>G (TTN) | ENSP00000343764.6:p.Thr27028Ser | |
| ENST00000359218.9:c.61967C>G (TTN) | ENSP00000352154.5:p.Thr20656Ser | |
| ENST00000460472.6:c.61592C>G (TTN) | ENSP00000434586.1:p.Thr20531Ser | |
| ENST00000589042.5:c.88787C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr29596Ser | |
| ENST00000591111.5:c.83864C>G (TTN) | ENSP00000465570.1:p.Thr27955Ser | |
| ENST00000615779.4:c.83864C>G (TTN) | ENSP00000483597.1:p.Thr27955Ser | |
| NM_001256850.1:c.83864C>G (TTN) | NP_001243779.1:p.Thr27955Ser | |
| NM_001267550.2:c.88787C>G (TTN) MANE Select | NP_001254479.2:p.Thr29596Ser | |
| NM_003319.4:c.61592C>G (TTN) | NP_003310.4:p.Thr20531Ser | |
| NM_133378.4:c.81083C>G (TTN) | NP_596869.4:p.Thr27028Ser | |
| NM_133432.3:c.61967C>G (TTN) | NP_597676.3:p.Thr20656Ser | |
| NM_133437.4:c.62168C>G (TTN) | NP_597681.4:p.Thr20723Ser | |
| NR_038271.1:n.447-16740G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+12199G>C (TTN-AS1) | ||
| XM_011511729.1:c.87884C>G (TTN) | XP_011510031.1:p.Thr29295Ser | |
| XM_011511730.1:c.61778C>G (TTN) | XP_011510032.1:p.Thr20593Ser | |
| XM_011511731.1:c.61637C>G (TTN) | XP_011510033.1:p.Thr20546Ser | |
| XM_017004819.1:c.87680C>G (TTN) | XP_016860308.1:p.Thr29227Ser | |
| XM_017004820.1:c.83078C>G (TTN) | XP_016860309.1:p.Thr27693Ser | |
| XM_017004821.1:c.83075C>G (TTN) | XP_016860310.1:p.Thr27692Ser | |
| XM_017004822.1:c.80117C>G (TTN) | XP_016860311.1:p.Thr26706Ser | |
| XM_017004823.1:c.61733C>G (TTN) | XP_016860312.1:p.Thr20578Ser | |
| XM_024453094.1:c.83228C>G (TTN) | XP_024308862.1:p.Thr27743Ser | |
| XM_024453095.1:c.83225C>G (TTN) | XP_024308863.1:p.Thr27742Ser | |
| XM_024453096.1:c.82658C>G (TTN) | XP_024308864.1:p.Thr27553Ser | |
| XM_024453097.1:c.80000C>G (TTN) | XP_024308865.1:p.Thr26667Ser | |
| XM_024453098.1:c.79919C>G (TTN) | XP_024308866.1:p.Thr26640Ser | |
| XM_024453099.1:c.61682C>G (TTN) | XP_024308867.1:p.Thr20561Ser | |
| XM_024453100.1:c.51536C>G (TTN) | XP_024308868.1:p.Thr17179Ser |