Linked Data
ClinVar Variation Id:
137807
ClinVar RCV Id:
RCV000176800
RCV000619456
RCV001131272
RCV001131271
RCV000768925
RCV001081896
RCV001131273
RCV001131274
RCV001131275
RCV003311627
dbSNP Id:
rs371344165
ExAC:
2:179435121 T / C
gnomAD v2:
2-179435121-T-C
gnomAD v3:
2-178570394-T-C
gnomAD v4:
2-178570394-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570394T>C , CM000664.2:g.178570394T>C | GRCh38 |
| NC_000002.11:g.179435121T>C , CM000664.1:g.179435121T>C | GRCh37 |
| NC_000002.10:g.179143367T>C | NCBI36 |
| NG_011618.3:g.265409A>G , LRG_391:g.265409A>G | |
| NG_051363.1:g.52568T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68034A>G (TTN) | ENSP00000343764.6:p.Glu22678= | |
| ENST00000342175.11:c.49119A>G (TTN) | ENSP00000340554.6:p.Glu16373= | |
| ENST00000359218.10:c.48918A>G (TTN) | ENSP00000352154.5:p.Glu16306= | |
| ENST00000342175.10:c.49119A>G (TTN) | ENSP00000340554.6:p.Glu16373= | |
| ENST00000342992.10:c.68034A>G (TTN) | ENSP00000343764.6:p.Glu22678= | |
| ENST00000359218.9:c.48918A>G (TTN) | ENSP00000352154.5:p.Glu16306= | |
| ENST00000460472.6:c.48543A>G (TTN) | ENSP00000434586.1:p.Glu16181= | |
| ENST00000589042.5:c.75738A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu25246= | |
| ENST00000591111.5:c.70815A>G (TTN) | ENSP00000465570.1:p.Glu23605= | |
| ENST00000615779.4:c.70815A>G (TTN) | ENSP00000483597.1:p.Glu23605= | |
| NM_001256850.1:c.70815A>G (TTN) | NP_001243779.1:p.Glu23605= | |
| NM_001267550.2:c.75738A>G (TTN) MANE Select | NP_001254479.2:p.Glu25246= | |
| NM_003319.4:c.48543A>G (TTN) | NP_003310.4:p.Glu16181= | |
| NM_133378.4:c.68034A>G (TTN) | NP_596869.4:p.Glu22678= | |
| NM_133432.3:c.48918A>G (TTN) | NP_597676.3:p.Glu16306= | |
| NM_133437.4:c.49119A>G (TTN) | NP_597681.4:p.Glu16373= | |
| NR_038271.1:n.447-906T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-12178T>C (TTN-AS1) | ||
| XM_011511729.1:c.74835A>G (TTN) | XP_011510031.1:p.Glu24945= | |
| XM_011511730.1:c.48729A>G (TTN) | XP_011510032.1:p.Glu16243= | |
| XM_011511731.1:c.48588A>G (TTN) | XP_011510033.1:p.Glu16196= | |
| XM_017004819.1:c.74631A>G (TTN) | XP_016860308.1:p.Glu24877= | |
| XM_017004820.1:c.70029A>G (TTN) | XP_016860309.1:p.Glu23343= | |
| XM_017004821.1:c.70026A>G (TTN) | XP_016860310.1:p.Glu23342= | |
| XM_017004822.1:c.67068A>G (TTN) | XP_016860311.1:p.Glu22356= | |
| XM_017004823.1:c.48684A>G (TTN) | XP_016860312.1:p.Glu16228= | |
| XM_024453094.1:c.70179A>G (TTN) | XP_024308862.1:p.Glu23393= | |
| XM_024453095.1:c.70176A>G (TTN) | XP_024308863.1:p.Glu23392= | |
| XM_024453096.1:c.69609A>G (TTN) | XP_024308864.1:p.Glu23203= | |
| XM_024453097.1:c.66951A>G (TTN) | XP_024308865.1:p.Glu22317= | |
| XM_024453098.1:c.66870A>G (TTN) | XP_024308866.1:p.Glu22290= | |
| XM_024453099.1:c.48633A>G (TTN) | XP_024308867.1:p.Glu16211= | |
| XM_024453100.1:c.38487A>G (TTN) | XP_024308868.1:p.Glu12829= |