Linked Data
ClinVar Variation Id:
191811
ClinVar RCV Id:
RCV000172150
RCV000412707
RCV000459823
RCV001129589
RCV001129591
RCV001129590
RCV001129592
RCV001129593
dbSNP Id:
rs200123047
ExAC:
2:179395852 G / A
gnomAD v2:
2-179395852-G-A
gnomAD v3:
2-178531125-G-A
gnomAD v4:
2-178531125-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531125G>A , CM000664.2:g.178531125G>A | GRCh38 |
| NC_000002.11:g.179395852G>A , CM000664.1:g.179395852G>A | GRCh37 |
| NC_000002.10:g.179104098G>A | NCBI36 |
| NG_011618.3:g.304678C>T , LRG_391:g.304678C>T | |
| NG_051363.1:g.13299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97786C>T (TTN) | ENSP00000343764.6:p.Arg32596Cys | |
| ENST00000342175.11:c.78871C>T (TTN) | ENSP00000340554.6:p.Arg26291Cys | |
| ENST00000359218.10:c.78670C>T (TTN) | ENSP00000352154.5:p.Arg26224Cys | |
| ENST00000342175.10:c.78871C>T (TTN) | ENSP00000340554.6:p.Arg26291Cys | |
| ENST00000342992.10:c.97786C>T (TTN) | ENSP00000343764.6:p.Arg32596Cys | |
| ENST00000359218.9:c.78670C>T (TTN) | ENSP00000352154.5:p.Arg26224Cys | |
| ENST00000460472.6:c.78295C>T (TTN) | ENSP00000434586.1:p.Arg26099Cys | |
| ENST00000589042.5:c.105490C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg35164Cys | |
| ENST00000591111.5:c.100567C>T (TTN) | ENSP00000465570.1:p.Arg33523Cys | |
| ENST00000615779.4:c.100567C>T (TTN) | ENSP00000483597.1:p.Arg33523Cys | |
| NM_001256850.1:c.100567C>T (TTN) | NP_001243779.1:p.Arg33523Cys | |
| NM_001267550.2:c.105490C>T (TTN) MANE Select | NP_001254479.2:p.Arg35164Cys | |
| NM_003319.4:c.78295C>T (TTN) | NP_003310.4:p.Arg26099Cys | |
| NM_133378.4:c.97786C>T (TTN) | NP_596869.4:p.Arg32596Cys | |
| NM_133432.3:c.78670C>T (TTN) | NP_597676.3:p.Arg26224Cys | |
| NM_133437.4:c.78871C>T (TTN) | NP_597681.4:p.Arg26291Cys | |
| NR_038271.1:n.446+7489G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4607G>A (TTN-AS1) | ||
| XM_011511729.1:c.104587C>T (TTN) | XP_011510031.1:p.Arg34863Cys | |
| XM_011511730.1:c.78481C>T (TTN) | XP_011510032.1:p.Arg26161Cys | |
| XM_011511731.1:c.78340C>T (TTN) | XP_011510033.1:p.Arg26114Cys | |
| XM_017004819.1:c.104383C>T (TTN) | XP_016860308.1:p.Arg34795Cys | |
| XM_017004820.1:c.99781C>T (TTN) | XP_016860309.1:p.Arg33261Cys | |
| XM_017004821.1:c.99778C>T (TTN) | XP_016860310.1:p.Arg33260Cys | |
| XM_017004822.1:c.96820C>T (TTN) | XP_016860311.1:p.Arg32274Cys | |
| XM_017004823.1:c.78436C>T (TTN) | XP_016860312.1:p.Arg26146Cys | |
| XM_024453094.1:c.99931C>T (TTN) | XP_024308862.1:p.Arg33311Cys | |
| XM_024453095.1:c.99928C>T (TTN) | XP_024308863.1:p.Arg33310Cys | |
| XM_024453096.1:c.99361C>T (TTN) | XP_024308864.1:p.Arg33121Cys | |
| XM_024453097.1:c.96703C>T (TTN) | XP_024308865.1:p.Arg32235Cys | |
| XM_024453098.1:c.96622C>T (TTN) | XP_024308866.1:p.Arg32208Cys | |
| XM_024453099.1:c.78385C>T (TTN) | XP_024308867.1:p.Arg26129Cys | |
| XM_024453100.1:c.68239C>T (TTN) | XP_024308868.1:p.Arg22747Cys |