Linked Data
ClinVar Variation Id:
47075
ClinVar RCV Id:
RCV000040345
RCV000276975
RCV000278213
RCV000366890
RCV000332004
RCV000372745
RCV000560612
RCV000770011
RCV001719771
RCV002426579
RCV004534907
dbSNP Id:
rs397517612
ExAC:
2:179472155 A / G
gnomAD v2:
2-179472155-A-G
gnomAD v3:
2-178607428-A-G
gnomAD v4:
2-178607428-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607428A>G , CM000664.2:g.178607428A>G | GRCh38 |
| NC_000002.11:g.179472155A>G , CM000664.1:g.179472155A>G | GRCh37 |
| NC_000002.10:g.179180400A>G | NCBI36 |
| NG_011618.3:g.228375T>C , LRG_391:g.228375T>C | |
| NG_051363.1:g.89602A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45556T>C (TTN) | ENSP00000343764.6:p.Phe15186Leu | |
| ENST00000342175.11:c.26641T>C (TTN) | ENSP00000340554.6:p.Phe8881Leu | |
| ENST00000359218.10:c.26440T>C (TTN) | ENSP00000352154.5:p.Phe8814Leu | |
| ENST00000342175.10:c.26641T>C (TTN) | ENSP00000340554.6:p.Phe8881Leu | |
| ENST00000342992.10:c.45556T>C (TTN) | ENSP00000343764.6:p.Phe15186Leu | |
| ENST00000359218.9:c.26440T>C (TTN) | ENSP00000352154.5:p.Phe8814Leu | |
| ENST00000460472.6:c.26065T>C (TTN) | ENSP00000434586.1:p.Phe8689Leu | |
| ENST00000589042.5:c.53260T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe17754Leu | |
| ENST00000591111.5:c.48337T>C (TTN) | ENSP00000465570.1:p.Phe16113Leu | |
| ENST00000615779.4:c.48337T>C (TTN) | ENSP00000483597.1:p.Phe16113Leu | |
| NM_001256850.1:c.48337T>C (TTN) | NP_001243779.1:p.Phe16113Leu | |
| NM_001267550.2:c.53260T>C (TTN) MANE Select | NP_001254479.2:p.Phe17754Leu | |
| NM_003319.4:c.26065T>C (TTN) | NP_003310.4:p.Phe8689Leu | |
| NM_133378.4:c.45556T>C (TTN) | NP_596869.4:p.Phe15186Leu | |
| NM_133432.3:c.26440T>C (TTN) | NP_597676.3:p.Phe8814Leu | |
| NM_133437.4:c.26641T>C (TTN) | NP_597681.4:p.Phe8881Leu | |
| NR_038271.1:n.683-739A>G (TTN-AS1) | ||
| XM_011511729.1:c.52357T>C (TTN) | XP_011510031.1:p.Phe17453Leu | |
| XM_011511730.1:c.26251T>C (TTN) | XP_011510032.1:p.Phe8751Leu | |
| XM_011511731.1:c.26110T>C (TTN) | XP_011510033.1:p.Phe8704Leu | |
| XM_017004819.1:c.52153T>C (TTN) | XP_016860308.1:p.Phe17385Leu | |
| XM_017004820.1:c.47551T>C (TTN) | XP_016860309.1:p.Phe15851Leu | |
| XM_017004821.1:c.47548T>C (TTN) | XP_016860310.1:p.Phe15850Leu | |
| XM_017004822.1:c.44590T>C (TTN) | XP_016860311.1:p.Phe14864Leu | |
| XM_017004823.1:c.26206T>C (TTN) | XP_016860312.1:p.Phe8736Leu | |
| XM_024453094.1:c.47701T>C (TTN) | XP_024308862.1:p.Phe15901Leu | |
| XM_024453095.1:c.47698T>C (TTN) | XP_024308863.1:p.Phe15900Leu | |
| XM_024453096.1:c.47131T>C (TTN) | XP_024308864.1:p.Phe15711Leu | |
| XM_024453097.1:c.44473T>C (TTN) | XP_024308865.1:p.Phe14825Leu | |
| XM_024453098.1:c.44392T>C (TTN) | XP_024308866.1:p.Phe14798Leu | |
| XM_024453099.1:c.26155T>C (TTN) | XP_024308867.1:p.Phe8719Leu | |
| XM_024453100.1:c.16009T>C (TTN) | XP_024308868.1:p.Phe5337Leu |