Linked Data
ClinVar Variation Id:
282638
dbSNP Id:
rs368820294
ExAC:
2:179472688 T / A
gnomAD v2:
2-179472688-T-A
gnomAD v3:
2-178607961-T-A
gnomAD v4:
2-178607961-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607961T>A , CM000664.2:g.178607961T>A | GRCh38 |
| NC_000002.11:g.179472688T>A , CM000664.1:g.179472688T>A | GRCh37 |
| NC_000002.10:g.179180933T>A | NCBI36 |
| NG_011618.3:g.227842A>T , LRG_391:g.227842A>T | |
| NG_051363.1:g.90135T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45122A>T (TTN) | ENSP00000343764.6:p.Gln15041Leu | |
| ENST00000342175.11:c.26207A>T (TTN) | ENSP00000340554.6:p.Gln8736Leu | |
| ENST00000359218.10:c.26006A>T (TTN) | ENSP00000352154.5:p.Gln8669Leu | |
| ENST00000342175.10:c.26207A>T (TTN) | ENSP00000340554.6:p.Gln8736Leu | |
| ENST00000342992.10:c.45122A>T (TTN) | ENSP00000343764.6:p.Gln15041Leu | |
| ENST00000359218.9:c.26006A>T (TTN) | ENSP00000352154.5:p.Gln8669Leu | |
| ENST00000460472.6:c.25631A>T (TTN) | ENSP00000434586.1:p.Gln8544Leu | |
| ENST00000589042.5:c.52826A>T (TTN) MANE Select | ENSP00000467141.1:p.Gln17609Leu | |
| ENST00000591111.5:c.47903A>T (TTN) | ENSP00000465570.1:p.Gln15968Leu | |
| ENST00000615779.4:c.47903A>T (TTN) | ENSP00000483597.1:p.Gln15968Leu | |
| NM_001256850.1:c.47903A>T (TTN) | NP_001243779.1:p.Gln15968Leu | |
| NM_001267550.2:c.52826A>T (TTN) MANE Select | NP_001254479.2:p.Gln17609Leu | |
| NM_003319.4:c.25631A>T (TTN) | NP_003310.4:p.Gln8544Leu | |
| NM_133378.4:c.45122A>T (TTN) | NP_596869.4:p.Gln15041Leu | |
| NM_133432.3:c.26006A>T (TTN) | NP_597676.3:p.Gln8669Leu | |
| NM_133437.4:c.26207A>T (TTN) | NP_597681.4:p.Gln8736Leu | |
| NR_038271.1:n.683-206T>A (TTN-AS1) | ||
| XM_011511729.1:c.51923A>T (TTN) | XP_011510031.1:p.Gln17308Leu | |
| XM_011511730.1:c.25817A>T (TTN) | XP_011510032.1:p.Gln8606Leu | |
| XM_011511731.1:c.25676A>T (TTN) | XP_011510033.1:p.Gln8559Leu | |
| XM_017004819.1:c.51719A>T (TTN) | XP_016860308.1:p.Gln17240Leu | |
| XM_017004820.1:c.47117A>T (TTN) | XP_016860309.1:p.Gln15706Leu | |
| XM_017004821.1:c.47114A>T (TTN) | XP_016860310.1:p.Gln15705Leu | |
| XM_017004822.1:c.44156A>T (TTN) | XP_016860311.1:p.Gln14719Leu | |
| XM_017004823.1:c.25772A>T (TTN) | XP_016860312.1:p.Gln8591Leu | |
| XM_024453094.1:c.47267A>T (TTN) | XP_024308862.1:p.Gln15756Leu | |
| XM_024453095.1:c.47264A>T (TTN) | XP_024308863.1:p.Gln15755Leu | |
| XM_024453096.1:c.46697A>T (TTN) | XP_024308864.1:p.Gln15566Leu | |
| XM_024453097.1:c.44039A>T (TTN) | XP_024308865.1:p.Gln14680Leu | |
| XM_024453098.1:c.43958A>T (TTN) | XP_024308866.1:p.Gln14653Leu | |
| XM_024453099.1:c.25721A>T (TTN) | XP_024308867.1:p.Gln8574Leu | |
| XM_024453100.1:c.15575A>T (TTN) | XP_024308868.1:p.Gln5192Leu |