Linked Data
ClinVar Variation Id:
202990
ClinVar RCV Id:
RCV000249807
RCV000315107
RCV000278867
RCV000336224
RCV000373149
RCV000338023
RCV000397381
RCV000397369
RCV000461639
RCV000768859
RCV001084202
RCV001293190
RCV004537559
dbSNP Id:
rs186234393
ExAC:
2:179413654 T / C
gnomAD v2:
2-179413654-T-C
gnomAD v3:
2-178548927-T-C
gnomAD v4:
2-178548927-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548927T>C , CM000664.2:g.178548927T>C | GRCh38 |
| NC_000002.11:g.179413654T>C , CM000664.1:g.179413654T>C | GRCh37 |
| NC_000002.10:g.179121900T>C | NCBI36 |
| NG_011618.3:g.286876A>G , LRG_391:g.286876A>G | |
| NG_051363.1:g.31101T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84995A>G (TTN) | ENSP00000343764.6:p.Asn28332Ser | |
| ENST00000342175.11:c.66080A>G (TTN) | ENSP00000340554.6:p.Asn22027Ser | |
| ENST00000359218.10:c.65879A>G (TTN) | ENSP00000352154.5:p.Asn21960Ser | |
| ENST00000342175.10:c.66080A>G (TTN) | ENSP00000340554.6:p.Asn22027Ser | |
| ENST00000342992.10:c.84995A>G (TTN) | ENSP00000343764.6:p.Asn28332Ser | |
| ENST00000359218.9:c.65879A>G (TTN) | ENSP00000352154.5:p.Asn21960Ser | |
| ENST00000460472.6:c.65504A>G (TTN) | ENSP00000434586.1:p.Asn21835Ser | |
| ENST00000589042.5:c.92699A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn30900Ser | |
| ENST00000591111.5:c.87776A>G (TTN) | ENSP00000465570.1:p.Asn29259Ser | |
| ENST00000615779.4:c.87776A>G (TTN) | ENSP00000483597.1:p.Asn29259Ser | |
| NM_001256850.1:c.87776A>G (TTN) | NP_001243779.1:p.Asn29259Ser | |
| NM_001267550.2:c.92699A>G (TTN) MANE Select | NP_001254479.2:p.Asn30900Ser | |
| NM_003319.4:c.65504A>G (TTN) | NP_003310.4:p.Asn21835Ser | |
| NM_133378.4:c.84995A>G (TTN) | NP_596869.4:p.Asn28332Ser | |
| NM_133432.3:c.65879A>G (TTN) | NP_597676.3:p.Asn21960Ser | |
| NM_133437.4:c.66080A>G (TTN) | NP_597681.4:p.Asn22027Ser | |
| NR_038271.1:n.447-22373T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+6566T>C (TTN-AS1) | ||
| XM_011511729.1:c.91796A>G (TTN) | XP_011510031.1:p.Asn30599Ser | |
| XM_011511730.1:c.65690A>G (TTN) | XP_011510032.1:p.Asn21897Ser | |
| XM_011511731.1:c.65549A>G (TTN) | XP_011510033.1:p.Asn21850Ser | |
| XM_017004819.1:c.91592A>G (TTN) | XP_016860308.1:p.Asn30531Ser | |
| XM_017004820.1:c.86990A>G (TTN) | XP_016860309.1:p.Asn28997Ser | |
| XM_017004821.1:c.86987A>G (TTN) | XP_016860310.1:p.Asn28996Ser | |
| XM_017004822.1:c.84029A>G (TTN) | XP_016860311.1:p.Asn28010Ser | |
| XM_017004823.1:c.65645A>G (TTN) | XP_016860312.1:p.Asn21882Ser | |
| XM_024453094.1:c.87140A>G (TTN) | XP_024308862.1:p.Asn29047Ser | |
| XM_024453095.1:c.87137A>G (TTN) | XP_024308863.1:p.Asn29046Ser | |
| XM_024453096.1:c.86570A>G (TTN) | XP_024308864.1:p.Asn28857Ser | |
| XM_024453097.1:c.83912A>G (TTN) | XP_024308865.1:p.Asn27971Ser | |
| XM_024453098.1:c.83831A>G (TTN) | XP_024308866.1:p.Asn27944Ser | |
| XM_024453099.1:c.65594A>G (TTN) | XP_024308867.1:p.Asn21865Ser | |
| XM_024453100.1:c.55448A>G (TTN) | XP_024308868.1:p.Asn18483Ser |