Linked Data
ClinVar Variation Id:
191958
dbSNP Id:
rs780334981
ExAC:
2:179483096 G / A
gnomAD v2:
2-179483096-G-A
gnomAD v3:
2-178618369-G-A
gnomAD v4:
2-178618369-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618369G>A , CM000664.2:g.178618369G>A | GRCh38 |
| NC_000002.11:g.179483096G>A , CM000664.1:g.179483096G>A | GRCh37 |
| NC_000002.10:g.179191341G>A | NCBI36 |
| NG_011618.3:g.217434C>T , LRG_391:g.217434C>T | |
| NG_051363.1:g.100543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39385C>T (TTN) | ENSP00000343764.6:p.Arg13129Cys | |
| ENST00000342175.11:c.20470C>T (TTN) | ENSP00000340554.6:p.Arg6824Cys | |
| ENST00000359218.10:c.20269C>T (TTN) | ENSP00000352154.5:p.Arg6757Cys | |
| ENST00000342175.10:c.20470C>T (TTN) | ENSP00000340554.6:p.Arg6824Cys | |
| ENST00000342992.10:c.39385C>T (TTN) | ENSP00000343764.6:p.Arg13129Cys | |
| ENST00000359218.9:c.20269C>T (TTN) | ENSP00000352154.5:p.Arg6757Cys | |
| ENST00000460472.6:c.19894C>T (TTN) | ENSP00000434586.1:p.Arg6632Cys | |
| ENST00000589042.5:c.47089C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg15697Cys | |
| ENST00000591111.5:c.42166C>T (TTN) | ENSP00000465570.1:p.Arg14056Cys | |
| ENST00000615779.4:c.42166C>T (TTN) | ENSP00000483597.1:p.Arg14056Cys | |
| NM_001256850.1:c.42166C>T (TTN) | NP_001243779.1:p.Arg14056Cys | |
| NM_001267550.2:c.47089C>T (TTN) MANE Select | NP_001254479.2:p.Arg15697Cys | |
| NM_003319.4:c.19894C>T (TTN) | NP_003310.4:p.Arg6632Cys | |
| NM_133378.4:c.39385C>T (TTN) | NP_596869.4:p.Arg13129Cys | |
| NM_133432.3:c.20269C>T (TTN) | NP_597676.3:p.Arg6757Cys | |
| NM_133437.4:c.20470C>T (TTN) | NP_597681.4:p.Arg6824Cys | |
| NR_038271.1:n.1605-1384G>A (TTN-AS1) | ||
| XM_011511729.1:c.46186C>T (TTN) | XP_011510031.1:p.Arg15396Cys | |
| XM_011511730.1:c.20080C>T (TTN) | XP_011510032.1:p.Arg6694Cys | |
| XM_011511731.1:c.19939C>T (TTN) | XP_011510033.1:p.Arg6647Cys | |
| XM_017004819.1:c.45982C>T (TTN) | XP_016860308.1:p.Arg15328Cys | |
| XM_017004820.1:c.41380C>T (TTN) | XP_016860309.1:p.Arg13794Cys | |
| XM_017004821.1:c.41377C>T (TTN) | XP_016860310.1:p.Arg13793Cys | |
| XM_017004822.1:c.38419C>T (TTN) | XP_016860311.1:p.Arg12807Cys | |
| XM_017004823.1:c.20035C>T (TTN) | XP_016860312.1:p.Arg6679Cys | |
| XM_024453094.1:c.41530C>T (TTN) | XP_024308862.1:p.Arg13844Cys | |
| XM_024453095.1:c.41527C>T (TTN) | XP_024308863.1:p.Arg13843Cys | |
| XM_024453096.1:c.40960C>T (TTN) | XP_024308864.1:p.Arg13654Cys | |
| XM_024453097.1:c.38302C>T (TTN) | XP_024308865.1:p.Arg12768Cys | |
| XM_024453098.1:c.38221C>T (TTN) | XP_024308866.1:p.Arg12741Cys | |
| XM_024453099.1:c.19984C>T (TTN) | XP_024308867.1:p.Arg6662Cys | |
| XM_024453100.1:c.9838C>T (TTN) | XP_024308868.1:p.Arg3280Cys |