Linked Data
ClinVar Variation Id:
96318
ClinVar RCV Id:
RCV000154886
RCV000227702
RCV000618156
RCV001130419
RCV001130418
RCV001135493
RCV001529854
RCV001130420
RCV001130421
RCV003486646
dbSNP Id:
rs139223781
ExAC:
2:179408199 A / G
gnomAD v2:
2-179408199-A-G
gnomAD v3:
2-178543472-A-G
gnomAD v4:
2-178543472-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543472A>G , CM000664.2:g.178543472A>G | GRCh38 |
| NC_000002.11:g.179408199A>G , CM000664.1:g.179408199A>G | GRCh37 |
| NC_000002.10:g.179116445A>G | NCBI36 |
| NG_011618.3:g.292331T>C , LRG_391:g.292331T>C | |
| NG_051363.1:g.25646A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88797T>C (TTN) | ENSP00000343764.6:p.Ser29599= | |
| ENST00000342175.11:c.69882T>C (TTN) | ENSP00000340554.6:p.Ser23294= | |
| ENST00000359218.10:c.69681T>C (TTN) | ENSP00000352154.5:p.Ser23227= | |
| ENST00000342175.10:c.69882T>C (TTN) | ENSP00000340554.6:p.Ser23294= | |
| ENST00000342992.10:c.88797T>C (TTN) | ENSP00000343764.6:p.Ser29599= | |
| ENST00000359218.9:c.69681T>C (TTN) | ENSP00000352154.5:p.Ser23227= | |
| ENST00000460472.6:c.69306T>C (TTN) | ENSP00000434586.1:p.Ser23102= | |
| ENST00000589042.5:c.96501T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser32167= | |
| ENST00000591111.5:c.91578T>C (TTN) | ENSP00000465570.1:p.Ser30526= | |
| ENST00000615779.4:c.91578T>C (TTN) | ENSP00000483597.1:p.Ser30526= | |
| NM_001256850.1:c.91578T>C (TTN) | NP_001243779.1:p.Ser30526= | |
| NM_001267550.2:c.96501T>C (TTN) MANE Select | NP_001254479.2:p.Ser32167= | |
| NM_003319.4:c.69306T>C (TTN) | NP_003310.4:p.Ser23102= | |
| NM_133378.4:c.88797T>C (TTN) | NP_596869.4:p.Ser29599= | |
| NM_133432.3:c.69681T>C (TTN) | NP_597676.3:p.Ser23227= | |
| NM_133437.4:c.69882T>C (TTN) | NP_597681.4:p.Ser23294= | |
| NR_038271.1:n.446+19836A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+1111A>G (TTN-AS1) | ||
| XM_011511729.1:c.95598T>C (TTN) | XP_011510031.1:p.Ser31866= | |
| XM_011511730.1:c.69492T>C (TTN) | XP_011510032.1:p.Ser23164= | |
| XM_011511731.1:c.69351T>C (TTN) | XP_011510033.1:p.Ser23117= | |
| XM_017004819.1:c.95394T>C (TTN) | XP_016860308.1:p.Ser31798= | |
| XM_017004820.1:c.90792T>C (TTN) | XP_016860309.1:p.Ser30264= | |
| XM_017004821.1:c.90789T>C (TTN) | XP_016860310.1:p.Ser30263= | |
| XM_017004822.1:c.87831T>C (TTN) | XP_016860311.1:p.Ser29277= | |
| XM_017004823.1:c.69447T>C (TTN) | XP_016860312.1:p.Ser23149= | |
| XM_024453094.1:c.90942T>C (TTN) | XP_024308862.1:p.Ser30314= | |
| XM_024453095.1:c.90939T>C (TTN) | XP_024308863.1:p.Ser30313= | |
| XM_024453096.1:c.90372T>C (TTN) | XP_024308864.1:p.Ser30124= | |
| XM_024453097.1:c.87714T>C (TTN) | XP_024308865.1:p.Ser29238= | |
| XM_024453098.1:c.87633T>C (TTN) | XP_024308866.1:p.Ser29211= | |
| XM_024453099.1:c.69396T>C (TTN) | XP_024308867.1:p.Ser23132= | |
| XM_024453100.1:c.59250T>C (TTN) | XP_024308868.1:p.Ser19750= |