Linked Data
ClinVar Variation Id:
281787
ClinVar RCV Id:
RCV000276620
RCV000282308
RCV000322337
RCV000331733
RCV000386284
RCV000373215
RCV000540534
RCV001170524
dbSNP Id:
rs760917372
ExAC:
2:179403919 T / C
gnomAD v2:
2-179403919-T-C
gnomAD v3:
2-178539192-T-C
gnomAD v4:
2-178539192-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539192T>C , CM000664.2:g.178539192T>C | GRCh38 |
| NC_000002.11:g.179403919T>C , CM000664.1:g.179403919T>C | GRCh37 |
| NC_000002.10:g.179112165T>C | NCBI36 |
| NG_011618.3:g.296611A>G , LRG_391:g.296611A>G | |
| NG_051363.1:g.21366T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91039A>G (TTN) | ENSP00000343764.6:p.Ser30347Gly | |
| ENST00000342175.11:c.72124A>G (TTN) | ENSP00000340554.6:p.Ser24042Gly | |
| ENST00000359218.10:c.71923A>G (TTN) | ENSP00000352154.5:p.Ser23975Gly | |
| ENST00000342175.10:c.72124A>G (TTN) | ENSP00000340554.6:p.Ser24042Gly | |
| ENST00000342992.10:c.91039A>G (TTN) | ENSP00000343764.6:p.Ser30347Gly | |
| ENST00000359218.9:c.71923A>G (TTN) | ENSP00000352154.5:p.Ser23975Gly | |
| ENST00000460472.6:c.71548A>G (TTN) | ENSP00000434586.1:p.Ser23850Gly | |
| ENST00000589042.5:c.98743A>G (TTN) MANE Select | ENSP00000467141.1:p.Ser32915Gly | |
| ENST00000591111.5:c.93820A>G (TTN) | ENSP00000465570.1:p.Ser31274Gly | |
| ENST00000615779.4:c.93820A>G (TTN) | ENSP00000483597.1:p.Ser31274Gly | |
| NM_001256850.1:c.93820A>G (TTN) | NP_001243779.1:p.Ser31274Gly | |
| NM_001267550.2:c.98743A>G (TTN) MANE Select | NP_001254479.2:p.Ser32915Gly | |
| NM_003319.4:c.71548A>G (TTN) | NP_003310.4:p.Ser23850Gly | |
| NM_133378.4:c.91039A>G (TTN) | NP_596869.4:p.Ser30347Gly | |
| NM_133432.3:c.71923A>G (TTN) | NP_597676.3:p.Ser23975Gly | |
| NM_133437.4:c.72124A>G (TTN) | NP_597681.4:p.Ser24042Gly | |
| NR_038271.1:n.446+15556T>C (TTN-AS1) | ||
| NR_038272.1:n.1142T>C (TTN-AS1) | ||
| XM_011511729.1:c.97840A>G (TTN) | XP_011510031.1:p.Ser32614Gly | |
| XM_011511730.1:c.71734A>G (TTN) | XP_011510032.1:p.Ser23912Gly | |
| XM_011511731.1:c.71593A>G (TTN) | XP_011510033.1:p.Ser23865Gly | |
| XM_017004819.1:c.97636A>G (TTN) | XP_016860308.1:p.Ser32546Gly | |
| XM_017004820.1:c.93034A>G (TTN) | XP_016860309.1:p.Ser31012Gly | |
| XM_017004821.1:c.93031A>G (TTN) | XP_016860310.1:p.Ser31011Gly | |
| XM_017004822.1:c.90073A>G (TTN) | XP_016860311.1:p.Ser30025Gly | |
| XM_017004823.1:c.71689A>G (TTN) | XP_016860312.1:p.Ser23897Gly | |
| XM_024453094.1:c.93184A>G (TTN) | XP_024308862.1:p.Ser31062Gly | |
| XM_024453095.1:c.93181A>G (TTN) | XP_024308863.1:p.Ser31061Gly | |
| XM_024453096.1:c.92614A>G (TTN) | XP_024308864.1:p.Ser30872Gly | |
| XM_024453097.1:c.89956A>G (TTN) | XP_024308865.1:p.Ser29986Gly | |
| XM_024453098.1:c.89875A>G (TTN) | XP_024308866.1:p.Ser29959Gly | |
| XM_024453099.1:c.71638A>G (TTN) | XP_024308867.1:p.Ser23880Gly | |
| XM_024453100.1:c.61492A>G (TTN) | XP_024308868.1:p.Ser20498Gly |