Linked Data
ClinVar Variation Id:
290587
dbSNP Id:
rs761713195
ExAC:
2:179431314 G / A
gnomAD v2:
2-179431314-G-A
gnomAD v3:
2-178566587-G-A
gnomAD v4:
2-178566587-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566587G>A , CM000664.2:g.178566587G>A | GRCh38 |
| NC_000002.11:g.179431314G>A , CM000664.1:g.179431314G>A | GRCh37 |
| NC_000002.10:g.179139560G>A | NCBI36 |
| NG_011618.3:g.269216C>T , LRG_391:g.269216C>T | |
| NG_051363.1:g.48761G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71841C>T (TTN) | ENSP00000343764.6:p.Gly23947= | |
| ENST00000342175.11:c.52926C>T (TTN) | ENSP00000340554.6:p.Gly17642= | |
| ENST00000359218.10:c.52725C>T (TTN) | ENSP00000352154.5:p.Gly17575= | |
| ENST00000342175.10:c.52926C>T (TTN) | ENSP00000340554.6:p.Gly17642= | |
| ENST00000342992.10:c.71841C>T (TTN) | ENSP00000343764.6:p.Gly23947= | |
| ENST00000359218.9:c.52725C>T (TTN) | ENSP00000352154.5:p.Gly17575= | |
| ENST00000460472.6:c.52350C>T (TTN) | ENSP00000434586.1:p.Gly17450= | |
| ENST00000589042.5:c.79545C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly26515= | |
| ENST00000591111.5:c.74622C>T (TTN) | ENSP00000465570.1:p.Gly24874= | |
| ENST00000615779.4:c.74622C>T (TTN) | ENSP00000483597.1:p.Gly24874= | |
| NM_001256850.1:c.74622C>T (TTN) | NP_001243779.1:p.Gly24874= | |
| NM_001267550.2:c.79545C>T (TTN) MANE Select | NP_001254479.2:p.Gly26515= | |
| NM_003319.4:c.52350C>T (TTN) | NP_003310.4:p.Gly17450= | |
| NM_133378.4:c.71841C>T (TTN) | NP_596869.4:p.Gly23947= | |
| NM_133432.3:c.52725C>T (TTN) | NP_597676.3:p.Gly17575= | |
| NM_133437.4:c.52926C>T (TTN) | NP_597681.4:p.Gly17642= | |
| NR_038271.1:n.447-4713G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-15985G>A (TTN-AS1) | ||
| XM_011511729.1:c.78642C>T (TTN) | XP_011510031.1:p.Gly26214= | |
| XM_011511730.1:c.52536C>T (TTN) | XP_011510032.1:p.Gly17512= | |
| XM_011511731.1:c.52395C>T (TTN) | XP_011510033.1:p.Gly17465= | |
| XM_017004819.1:c.78438C>T (TTN) | XP_016860308.1:p.Gly26146= | |
| XM_017004820.1:c.73836C>T (TTN) | XP_016860309.1:p.Gly24612= | |
| XM_017004821.1:c.73833C>T (TTN) | XP_016860310.1:p.Gly24611= | |
| XM_017004822.1:c.70875C>T (TTN) | XP_016860311.1:p.Gly23625= | |
| XM_017004823.1:c.52491C>T (TTN) | XP_016860312.1:p.Gly17497= | |
| XM_024453094.1:c.73986C>T (TTN) | XP_024308862.1:p.Gly24662= | |
| XM_024453095.1:c.73983C>T (TTN) | XP_024308863.1:p.Gly24661= | |
| XM_024453096.1:c.73416C>T (TTN) | XP_024308864.1:p.Gly24472= | |
| XM_024453097.1:c.70758C>T (TTN) | XP_024308865.1:p.Gly23586= | |
| XM_024453098.1:c.70677C>T (TTN) | XP_024308866.1:p.Gly23559= | |
| XM_024453099.1:c.52440C>T (TTN) | XP_024308867.1:p.Gly17480= | |
| XM_024453100.1:c.42294C>T (TTN) | XP_024308868.1:p.Gly14098= |