Linked Data
ClinVar Variation Id:
195843
ClinVar RCV Id:
RCV000176513
RCV000218113
RCV000245462
RCV000537285
RCV001132558
RCV001133469
RCV001132557
RCV001132559
RCV001132560
RCV003486729
RCV004537403
dbSNP Id:
rs191927501
ExAC:
2:179458757 C / T
gnomAD v2:
2-179458757-C-T
gnomAD v3:
2-178594030-C-T
gnomAD v4:
2-178594030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594030C>T , CM000664.2:g.178594030C>T | GRCh38 |
| NC_000002.11:g.179458757C>T , CM000664.1:g.179458757C>T | GRCh37 |
| NC_000002.10:g.179167003C>T | NCBI36 |
| NG_011618.3:g.241773G>A , LRG_391:g.241773G>A | |
| NG_051363.1:g.76204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50659G>A (TTN) | ENSP00000343764.6:p.Gly16887Ser | |
| ENST00000342175.11:c.31744G>A (TTN) | ENSP00000340554.6:p.Gly10582Ser | |
| ENST00000359218.10:c.31543G>A (TTN) | ENSP00000352154.5:p.Gly10515Ser | |
| ENST00000342175.10:c.31744G>A (TTN) | ENSP00000340554.6:p.Gly10582Ser | |
| ENST00000342992.10:c.50659G>A (TTN) | ENSP00000343764.6:p.Gly16887Ser | |
| ENST00000359218.9:c.31543G>A (TTN) | ENSP00000352154.5:p.Gly10515Ser | |
| ENST00000460472.6:c.31168G>A (TTN) | ENSP00000434586.1:p.Gly10390Ser | |
| ENST00000589042.5:c.58363G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly19455Ser | |
| ENST00000591111.5:c.53440G>A (TTN) | ENSP00000465570.1:p.Gly17814Ser | |
| ENST00000615779.4:c.53440G>A (TTN) | ENSP00000483597.1:p.Gly17814Ser | |
| NM_001256850.1:c.53440G>A (TTN) | NP_001243779.1:p.Gly17814Ser | |
| NM_001267550.2:c.58363G>A (TTN) MANE Select | NP_001254479.2:p.Gly19455Ser | |
| NM_003319.4:c.31168G>A (TTN) | NP_003310.4:p.Gly10390Ser | |
| NM_133378.4:c.50659G>A (TTN) | NP_596869.4:p.Gly16887Ser | |
| NM_133432.3:c.31543G>A (TTN) | NP_597676.3:p.Gly10515Ser | |
| NM_133437.4:c.31744G>A (TTN) | NP_597681.4:p.Gly10582Ser | |
| NR_038271.1:n.597-3566C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+2716C>T (TTN-AS1) | ||
| XM_011511729.1:c.57460G>A (TTN) | XP_011510031.1:p.Gly19154Ser | |
| XM_011511730.1:c.31354G>A (TTN) | XP_011510032.1:p.Gly10452Ser | |
| XM_011511731.1:c.31213G>A (TTN) | XP_011510033.1:p.Gly10405Ser | |
| XM_017004819.1:c.57256G>A (TTN) | XP_016860308.1:p.Gly19086Ser | |
| XM_017004820.1:c.52654G>A (TTN) | XP_016860309.1:p.Gly17552Ser | |
| XM_017004821.1:c.52651G>A (TTN) | XP_016860310.1:p.Gly17551Ser | |
| XM_017004822.1:c.49693G>A (TTN) | XP_016860311.1:p.Gly16565Ser | |
| XM_017004823.1:c.31309G>A (TTN) | XP_016860312.1:p.Gly10437Ser | |
| XM_024453094.1:c.52804G>A (TTN) | XP_024308862.1:p.Gly17602Ser | |
| XM_024453095.1:c.52801G>A (TTN) | XP_024308863.1:p.Gly17601Ser | |
| XM_024453096.1:c.52234G>A (TTN) | XP_024308864.1:p.Gly17412Ser | |
| XM_024453097.1:c.49576G>A (TTN) | XP_024308865.1:p.Gly16526Ser | |
| XM_024453098.1:c.49495G>A (TTN) | XP_024308866.1:p.Gly16499Ser | |
| XM_024453099.1:c.31258G>A (TTN) | XP_024308867.1:p.Gly10420Ser | |
| XM_024453100.1:c.21112G>A (TTN) | XP_024308868.1:p.Gly7038Ser |