Linked Data
ClinVar Variation Id:
165925
ClinVar RCV Id:
RCV000152269
RCV000206824
RCV000294997
RCV000252438
RCV000329660
RCV000333638
RCV000289179
RCV000381251
RCV001532421
dbSNP Id:
rs6706088
ExAC:
2:179455423 A / G
gnomAD v2:
2-179455423-A-G
gnomAD v3:
2-178590696-A-G
gnomAD v4:
2-178590696-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590696A>G , CM000664.2:g.178590696A>G | GRCh38 |
| NC_000002.11:g.179455423A>G , CM000664.1:g.179455423A>G | GRCh37 |
| NC_000002.10:g.179163669A>G | NCBI36 |
| NG_011618.3:g.245107T>C , LRG_391:g.245107T>C | |
| NG_051363.1:g.72870A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53325T>C (TTN) | ENSP00000343764.6:p.Phe17775= | |
| ENST00000342175.11:c.34410T>C (TTN) | ENSP00000340554.6:p.Phe11470= | |
| ENST00000359218.10:c.34209T>C (TTN) | ENSP00000352154.5:p.Phe11403= | |
| ENST00000342175.10:c.34410T>C (TTN) | ENSP00000340554.6:p.Phe11470= | |
| ENST00000342992.10:c.53325T>C (TTN) | ENSP00000343764.6:p.Phe17775= | |
| ENST00000359218.9:c.34209T>C (TTN) | ENSP00000352154.5:p.Phe11403= | |
| ENST00000460472.6:c.33834T>C (TTN) | ENSP00000434586.1:p.Phe11278= | |
| ENST00000589042.5:c.61029T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe20343= | |
| ENST00000591111.5:c.56106T>C (TTN) | ENSP00000465570.1:p.Phe18702= | |
| ENST00000615779.4:c.56106T>C (TTN) | ENSP00000483597.1:p.Phe18702= | |
| NM_001256850.1:c.56106T>C (TTN) | NP_001243779.1:p.Phe18702= | |
| NM_001267550.2:c.61029T>C (TTN) MANE Select | NP_001254479.2:p.Phe20343= | |
| NM_003319.4:c.33834T>C (TTN) | NP_003310.4:p.Phe11278= | |
| NM_133378.4:c.53325T>C (TTN) | NP_596869.4:p.Phe17775= | |
| NM_133432.3:c.34209T>C (TTN) | NP_597676.3:p.Phe11403= | |
| NM_133437.4:c.34410T>C (TTN) | NP_597681.4:p.Phe11470= | |
| NR_038271.1:n.597-6900A>G (TTN-AS1) | ||
| NR_038272.1:n.3189-443A>G (TTN-AS1) | ||
| XM_011511729.1:c.60126T>C (TTN) | XP_011510031.1:p.Phe20042= | |
| XM_011511730.1:c.34020T>C (TTN) | XP_011510032.1:p.Phe11340= | |
| XM_011511731.1:c.33879T>C (TTN) | XP_011510033.1:p.Phe11293= | |
| XM_017004819.1:c.59922T>C (TTN) | XP_016860308.1:p.Phe19974= | |
| XM_017004820.1:c.55320T>C (TTN) | XP_016860309.1:p.Phe18440= | |
| XM_017004821.1:c.55317T>C (TTN) | XP_016860310.1:p.Phe18439= | |
| XM_017004822.1:c.52359T>C (TTN) | XP_016860311.1:p.Phe17453= | |
| XM_017004823.1:c.33975T>C (TTN) | XP_016860312.1:p.Phe11325= | |
| XM_024453094.1:c.55470T>C (TTN) | XP_024308862.1:p.Phe18490= | |
| XM_024453095.1:c.55467T>C (TTN) | XP_024308863.1:p.Phe18489= | |
| XM_024453096.1:c.54900T>C (TTN) | XP_024308864.1:p.Phe18300= | |
| XM_024453097.1:c.52242T>C (TTN) | XP_024308865.1:p.Phe17414= | |
| XM_024453098.1:c.52161T>C (TTN) | XP_024308866.1:p.Phe17387= | |
| XM_024453099.1:c.33924T>C (TTN) | XP_024308867.1:p.Phe11308= | |
| XM_024453100.1:c.23778T>C (TTN) | XP_024308868.1:p.Phe7926= |