Linked Data
ClinVar Variation Id:
501203
dbSNP Id:
rs375726644
ExAC:
2:179436924 G / T
gnomAD v2:
2-179436924-G-T
gnomAD v3:
2-178572197-G-T
gnomAD v4:
2-178572197-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572197G>T , CM000664.2:g.178572197G>T | GRCh38 |
| NC_000002.11:g.179436924G>T , CM000664.1:g.179436924G>T | GRCh37 |
| NC_000002.10:g.179145170G>T | NCBI36 |
| NG_011618.3:g.263606C>A , LRG_391:g.263606C>A | |
| NG_051363.1:g.54371G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66231C>A (TTN) | ENSP00000343764.6:p.Gly22077= | |
| ENST00000342175.11:c.47316C>A (TTN) | ENSP00000340554.6:p.Gly15772= | |
| ENST00000359218.10:c.47115C>A (TTN) | ENSP00000352154.5:p.Gly15705= | |
| ENST00000342175.10:c.47316C>A (TTN) | ENSP00000340554.6:p.Gly15772= | |
| ENST00000342992.10:c.66231C>A (TTN) | ENSP00000343764.6:p.Gly22077= | |
| ENST00000359218.9:c.47115C>A (TTN) | ENSP00000352154.5:p.Gly15705= | |
| ENST00000460472.6:c.46740C>A (TTN) | ENSP00000434586.1:p.Gly15580= | |
| ENST00000589042.5:c.73935C>A (TTN) MANE Select | ENSP00000467141.1:p.Gly24645= | |
| ENST00000591111.5:c.69012C>A (TTN) | ENSP00000465570.1:p.Gly23004= | |
| ENST00000615779.4:c.69012C>A (TTN) | ENSP00000483597.1:p.Gly23004= | |
| NM_001256850.1:c.69012C>A (TTN) | NP_001243779.1:p.Gly23004= | |
| NM_001267550.2:c.73935C>A (TTN) MANE Select | NP_001254479.2:p.Gly24645= | |
| NM_003319.4:c.46740C>A (TTN) | NP_003310.4:p.Gly15580= | |
| NM_133378.4:c.66231C>A (TTN) | NP_596869.4:p.Gly22077= | |
| NM_133432.3:c.47115C>A (TTN) | NP_597676.3:p.Gly15705= | |
| NM_133437.4:c.47316C>A (TTN) | NP_597681.4:p.Gly15772= | |
| NR_038271.1:n.596+748G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-10375G>T (TTN-AS1) | ||
| XM_011511729.1:c.73032C>A (TTN) | XP_011510031.1:p.Gly24344= | |
| XM_011511730.1:c.46926C>A (TTN) | XP_011510032.1:p.Gly15642= | |
| XM_011511731.1:c.46785C>A (TTN) | XP_011510033.1:p.Gly15595= | |
| XM_017004819.1:c.72828C>A (TTN) | XP_016860308.1:p.Gly24276= | |
| XM_017004820.1:c.68226C>A (TTN) | XP_016860309.1:p.Gly22742= | |
| XM_017004821.1:c.68223C>A (TTN) | XP_016860310.1:p.Gly22741= | |
| XM_017004822.1:c.65265C>A (TTN) | XP_016860311.1:p.Gly21755= | |
| XM_017004823.1:c.46881C>A (TTN) | XP_016860312.1:p.Gly15627= | |
| XM_024453094.1:c.68376C>A (TTN) | XP_024308862.1:p.Gly22792= | |
| XM_024453095.1:c.68373C>A (TTN) | XP_024308863.1:p.Gly22791= | |
| XM_024453096.1:c.67806C>A (TTN) | XP_024308864.1:p.Gly22602= | |
| XM_024453097.1:c.65148C>A (TTN) | XP_024308865.1:p.Gly21716= | |
| XM_024453098.1:c.65067C>A (TTN) | XP_024308866.1:p.Gly21689= | |
| XM_024453099.1:c.46830C>A (TTN) | XP_024308867.1:p.Gly15610= | |
| XM_024453100.1:c.36684C>A (TTN) | XP_024308868.1:p.Gly12228= |