Linked Data
ClinVar Variation Id:
46999
ClinVar RCV Id:
RCV000040269
RCV000557245
RCV001133061
RCV001133062
RCV001133063
RCV001133064
RCV001133065
RCV002408533
RCV003326338
dbSNP Id:
rs147703145
ExAC:
2:179484758 G / A
gnomAD v2:
2-179484758-G-A
gnomAD v3:
2-178620031-G-A
gnomAD v4:
2-178620031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620031G>A , CM000664.2:g.178620031G>A | GRCh38 |
| NC_000002.11:g.179484758G>A , CM000664.1:g.179484758G>A | GRCh37 |
| NC_000002.10:g.179193003G>A | NCBI36 |
| NG_011618.3:g.215772C>T , LRG_391:g.215772C>T | |
| NG_051363.1:g.102205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38682C>T (TTN) | ENSP00000343764.6:p.Cys12894= | |
| ENST00000342175.11:c.19767C>T (TTN) | ENSP00000340554.6:p.Cys6589= | |
| ENST00000359218.10:c.19566C>T (TTN) | ENSP00000352154.5:p.Cys6522= | |
| ENST00000342175.10:c.19767C>T (TTN) | ENSP00000340554.6:p.Cys6589= | |
| ENST00000342992.10:c.38682C>T (TTN) | ENSP00000343764.6:p.Cys12894= | |
| ENST00000359218.9:c.19566C>T (TTN) | ENSP00000352154.5:p.Cys6522= | |
| ENST00000460472.6:c.19191C>T (TTN) | ENSP00000434586.1:p.Cys6397= | |
| ENST00000589042.5:c.46386C>T (TTN) MANE Select | ENSP00000467141.1:p.Cys15462= | |
| ENST00000591111.5:c.41463C>T (TTN) | ENSP00000465570.1:p.Cys13821= | |
| ENST00000615779.4:c.41463C>T (TTN) | ENSP00000483597.1:p.Cys13821= | |
| NM_001256850.1:c.41463C>T (TTN) | NP_001243779.1:p.Cys13821= | |
| NM_001267550.2:c.46386C>T (TTN) MANE Select | NP_001254479.2:p.Cys15462= | |
| NM_003319.4:c.19191C>T (TTN) | NP_003310.4:p.Cys6397= | |
| NM_133378.4:c.38682C>T (TTN) | NP_596869.4:p.Cys12894= | |
| NM_133432.3:c.19566C>T (TTN) | NP_597676.3:p.Cys6522= | |
| NM_133437.4:c.19767C>T (TTN) | NP_597681.4:p.Cys6589= | |
| NR_038271.1:n.1883G>A (TTN-AS1) | ||
| XM_011511729.1:c.45483C>T (TTN) | XP_011510031.1:p.Cys15161= | |
| XM_011511730.1:c.19377C>T (TTN) | XP_011510032.1:p.Cys6459= | |
| XM_011511731.1:c.19236C>T (TTN) | XP_011510033.1:p.Cys6412= | |
| XM_017004819.1:c.45279C>T (TTN) | XP_016860308.1:p.Cys15093= | |
| XM_017004820.1:c.40677C>T (TTN) | XP_016860309.1:p.Cys13559= | |
| XM_017004821.1:c.40674C>T (TTN) | XP_016860310.1:p.Cys13558= | |
| XM_017004822.1:c.37716C>T (TTN) | XP_016860311.1:p.Cys12572= | |
| XM_017004823.1:c.19332C>T (TTN) | XP_016860312.1:p.Cys6444= | |
| XM_024453094.1:c.40827C>T (TTN) | XP_024308862.1:p.Cys13609= | |
| XM_024453095.1:c.40824C>T (TTN) | XP_024308863.1:p.Cys13608= | |
| XM_024453096.1:c.40257C>T (TTN) | XP_024308864.1:p.Cys13419= | |
| XM_024453097.1:c.37599C>T (TTN) | XP_024308865.1:p.Cys12533= | |
| XM_024453098.1:c.37518C>T (TTN) | XP_024308866.1:p.Cys12506= | |
| XM_024453099.1:c.19281C>T (TTN) | XP_024308867.1:p.Cys6427= | |
| XM_024453100.1:c.9135C>T (TTN) | XP_024308868.1:p.Cys3045= |