Linked Data
ClinVar Variation Id:
47600
ClinVar RCV Id:
RCV000040869
RCV000419770
RCV000768846
RCV000621374
RCV001129725
RCV000852783
RCV001132433
RCV001082901
RCV001129726
RCV001132434
RCV001132435
dbSNP Id:
rs149001703
ExAC:
2:179404402 T / C
gnomAD v2:
2-179404402-T-C
gnomAD v3:
2-178539675-T-C
gnomAD v4:
2-178539675-T-C
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539675T>C , CM000664.2:g.178539675T>C | GRCh38 |
| NC_000002.11:g.179404402T>C , CM000664.1:g.179404402T>C | GRCh37 |
| NC_000002.10:g.179112648T>C | NCBI36 |
| NG_011618.3:g.296128A>G , LRG_391:g.296128A>G | |
| NG_051363.1:g.21849T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90686A>G (TTN) | ENSP00000343764.6:p.Asn30229Ser | |
| ENST00000342175.11:c.71771A>G (TTN) | ENSP00000340554.6:p.Asn23924Ser | |
| ENST00000359218.10:c.71570A>G (TTN) | ENSP00000352154.5:p.Asn23857Ser | |
| ENST00000342175.10:c.71771A>G (TTN) | ENSP00000340554.6:p.Asn23924Ser | |
| ENST00000342992.10:c.90686A>G (TTN) | ENSP00000343764.6:p.Asn30229Ser | |
| ENST00000359218.9:c.71570A>G (TTN) | ENSP00000352154.5:p.Asn23857Ser | |
| ENST00000460472.6:c.71195A>G (TTN) | ENSP00000434586.1:p.Asn23732Ser | |
| ENST00000589042.5:c.98390A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn32797Ser | |
| ENST00000591111.5:c.93467A>G (TTN) | ENSP00000465570.1:p.Asn31156Ser | |
| ENST00000615779.4:c.93467A>G (TTN) | ENSP00000483597.1:p.Asn31156Ser | |
| NM_001256850.1:c.93467A>G (TTN) | NP_001243779.1:p.Asn31156Ser | |
| NM_001267550.2:c.98390A>G (TTN) MANE Select | NP_001254479.2:p.Asn32797Ser | |
| NM_003319.4:c.71195A>G (TTN) | NP_003310.4:p.Asn23732Ser | |
| NM_133378.4:c.90686A>G (TTN) | NP_596869.4:p.Asn30229Ser | |
| NM_133432.3:c.71570A>G (TTN) | NP_597676.3:p.Asn23857Ser | |
| NM_133437.4:c.71771A>G (TTN) | NP_597681.4:p.Asn23924Ser | |
| NR_038271.1:n.446+16039T>C (TTN-AS1) | ||
| NR_038272.1:n.1625T>C (TTN-AS1) | ||
| XM_011511729.1:c.97487A>G (TTN) | XP_011510031.1:p.Asn32496Ser | |
| XM_011511730.1:c.71381A>G (TTN) | XP_011510032.1:p.Asn23794Ser | |
| XM_011511731.1:c.71240A>G (TTN) | XP_011510033.1:p.Asn23747Ser | |
| XM_017004819.1:c.97283A>G (TTN) | XP_016860308.1:p.Asn32428Ser | |
| XM_017004820.1:c.92681A>G (TTN) | XP_016860309.1:p.Asn30894Ser | |
| XM_017004821.1:c.92678A>G (TTN) | XP_016860310.1:p.Asn30893Ser | |
| XM_017004822.1:c.89720A>G (TTN) | XP_016860311.1:p.Asn29907Ser | |
| XM_017004823.1:c.71336A>G (TTN) | XP_016860312.1:p.Asn23779Ser | |
| XM_024453094.1:c.92831A>G (TTN) | XP_024308862.1:p.Asn30944Ser | |
| XM_024453095.1:c.92828A>G (TTN) | XP_024308863.1:p.Asn30943Ser | |
| XM_024453096.1:c.92261A>G (TTN) | XP_024308864.1:p.Asn30754Ser | |
| XM_024453097.1:c.89603A>G (TTN) | XP_024308865.1:p.Asn29868Ser | |
| XM_024453098.1:c.89522A>G (TTN) | XP_024308866.1:p.Asn29841Ser | |
| XM_024453099.1:c.71285A>G (TTN) | XP_024308867.1:p.Asn23762Ser | |
| XM_024453100.1:c.61139A>G (TTN) | XP_024308868.1:p.Asn20380Ser |