Linked Data
ClinVar Variation Id:
96306
ClinVar RCV Id:
RCV000152208
RCV000261192
RCV000332574
RCV000389361
RCV000301222
RCV000467146
RCV000353634
RCV000723763
RCV001170790
RCV004529866
RCV002345399
dbSNP Id:
rs200181804
ExAC:
2:179430596 A / G
gnomAD v2:
2-179430596-A-G
gnomAD v3:
2-178565869-A-G
gnomAD v4:
2-178565869-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565869A>G , CM000664.2:g.178565869A>G | GRCh38 |
| NC_000002.11:g.179430596A>G , CM000664.1:g.179430596A>G | GRCh37 |
| NC_000002.10:g.179138842A>G | NCBI36 |
| NG_011618.3:g.269934T>C , LRG_391:g.269934T>C | |
| NG_051363.1:g.48043A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72559T>C (TTN) | ENSP00000343764.6:p.Phe24187Leu | |
| ENST00000342175.11:c.53644T>C (TTN) | ENSP00000340554.6:p.Phe17882Leu | |
| ENST00000359218.10:c.53443T>C (TTN) | ENSP00000352154.5:p.Phe17815Leu | |
| ENST00000342175.10:c.53644T>C (TTN) | ENSP00000340554.6:p.Phe17882Leu | |
| ENST00000342992.10:c.72559T>C (TTN) | ENSP00000343764.6:p.Phe24187Leu | |
| ENST00000359218.9:c.53443T>C (TTN) | ENSP00000352154.5:p.Phe17815Leu | |
| ENST00000460472.6:c.53068T>C (TTN) | ENSP00000434586.1:p.Phe17690Leu | |
| ENST00000589042.5:c.80263T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe26755Leu | |
| ENST00000591111.5:c.75340T>C (TTN) | ENSP00000465570.1:p.Phe25114Leu | |
| ENST00000615779.4:c.75340T>C (TTN) | ENSP00000483597.1:p.Phe25114Leu | |
| NM_001256850.1:c.75340T>C (TTN) | NP_001243779.1:p.Phe25114Leu | |
| NM_001267550.2:c.80263T>C (TTN) MANE Select | NP_001254479.2:p.Phe26755Leu | |
| NM_003319.4:c.53068T>C (TTN) | NP_003310.4:p.Phe17690Leu | |
| NM_133378.4:c.72559T>C (TTN) | NP_596869.4:p.Phe24187Leu | |
| NM_133432.3:c.53443T>C (TTN) | NP_597676.3:p.Phe17815Leu | |
| NM_133437.4:c.53644T>C (TTN) | NP_597681.4:p.Phe17882Leu | |
| NR_038271.1:n.447-5431A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-16703A>G (TTN-AS1) | ||
| XM_011511729.1:c.79360T>C (TTN) | XP_011510031.1:p.Phe26454Leu | |
| XM_011511730.1:c.53254T>C (TTN) | XP_011510032.1:p.Phe17752Leu | |
| XM_011511731.1:c.53113T>C (TTN) | XP_011510033.1:p.Phe17705Leu | |
| XM_017004819.1:c.79156T>C (TTN) | XP_016860308.1:p.Phe26386Leu | |
| XM_017004820.1:c.74554T>C (TTN) | XP_016860309.1:p.Phe24852Leu | |
| XM_017004821.1:c.74551T>C (TTN) | XP_016860310.1:p.Phe24851Leu | |
| XM_017004822.1:c.71593T>C (TTN) | XP_016860311.1:p.Phe23865Leu | |
| XM_017004823.1:c.53209T>C (TTN) | XP_016860312.1:p.Phe17737Leu | |
| XM_024453094.1:c.74704T>C (TTN) | XP_024308862.1:p.Phe24902Leu | |
| XM_024453095.1:c.74701T>C (TTN) | XP_024308863.1:p.Phe24901Leu | |
| XM_024453096.1:c.74134T>C (TTN) | XP_024308864.1:p.Phe24712Leu | |
| XM_024453097.1:c.71476T>C (TTN) | XP_024308865.1:p.Phe23826Leu | |
| XM_024453098.1:c.71395T>C (TTN) | XP_024308866.1:p.Phe23799Leu | |
| XM_024453099.1:c.53158T>C (TTN) | XP_024308867.1:p.Phe17720Leu | |
| XM_024453100.1:c.43012T>C (TTN) | XP_024308868.1:p.Phe14338Leu |