Linked Data
ClinVar Variation Id:
179187
ClinVar RCV Id:
RCV000155973
RCV000172667
RCV000242630
RCV001135859
RCV001085935
RCV001128852
RCV001128853
RCV001135860
RCV001135861
RCV004535005
dbSNP Id:
rs376273101
ExAC:
2:179480475 T / C
gnomAD v2:
2-179480475-T-C
gnomAD v3:
2-178615748-T-C
gnomAD v4:
2-178615748-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615748T>C , CM000664.2:g.178615748T>C | GRCh38 |
| NC_000002.11:g.179480475T>C , CM000664.1:g.179480475T>C | GRCh37 |
| NC_000002.10:g.179188720T>C | NCBI36 |
| NG_011618.3:g.220055A>G , LRG_391:g.220055A>G | |
| NG_051363.1:g.97922T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40649A>G (TTN) | ENSP00000343764.6:p.Asp13550Gly | |
| ENST00000342175.11:c.21734A>G (TTN) | ENSP00000340554.6:p.Asp7245Gly | |
| ENST00000359218.10:c.21533A>G (TTN) | ENSP00000352154.5:p.Asp7178Gly | |
| ENST00000342175.10:c.21734A>G (TTN) | ENSP00000340554.6:p.Asp7245Gly | |
| ENST00000342992.10:c.40649A>G (TTN) | ENSP00000343764.6:p.Asp13550Gly | |
| ENST00000359218.9:c.21533A>G (TTN) | ENSP00000352154.5:p.Asp7178Gly | |
| ENST00000460472.6:c.21158A>G (TTN) | ENSP00000434586.1:p.Asp7053Gly | |
| ENST00000589042.5:c.48353A>G (TTN) MANE Select | ENSP00000467141.1:p.Asp16118Gly | |
| ENST00000591111.5:c.43430A>G (TTN) | ENSP00000465570.1:p.Asp14477Gly | |
| ENST00000615779.4:c.43430A>G (TTN) | ENSP00000483597.1:p.Asp14477Gly | |
| NM_001256850.1:c.43430A>G (TTN) | NP_001243779.1:p.Asp14477Gly | |
| NM_001267550.2:c.48353A>G (TTN) MANE Select | NP_001254479.2:p.Asp16118Gly | |
| NM_003319.4:c.21158A>G (TTN) | NP_003310.4:p.Asp7053Gly | |
| NM_133378.4:c.40649A>G (TTN) | NP_596869.4:p.Asp13550Gly | |
| NM_133432.3:c.21533A>G (TTN) | NP_597676.3:p.Asp7178Gly | |
| NM_133437.4:c.21734A>G (TTN) | NP_597681.4:p.Asp7245Gly | |
| NR_038271.1:n.1604+374T>C (TTN-AS1) | ||
| XM_011511729.1:c.47450A>G (TTN) | XP_011510031.1:p.Asp15817Gly | |
| XM_011511730.1:c.21344A>G (TTN) | XP_011510032.1:p.Asp7115Gly | |
| XM_011511731.1:c.21203A>G (TTN) | XP_011510033.1:p.Asp7068Gly | |
| XM_017004819.1:c.47246A>G (TTN) | XP_016860308.1:p.Asp15749Gly | |
| XM_017004820.1:c.42644A>G (TTN) | XP_016860309.1:p.Asp14215Gly | |
| XM_017004821.1:c.42641A>G (TTN) | XP_016860310.1:p.Asp14214Gly | |
| XM_017004822.1:c.39683A>G (TTN) | XP_016860311.1:p.Asp13228Gly | |
| XM_017004823.1:c.21299A>G (TTN) | XP_016860312.1:p.Asp7100Gly | |
| XM_024453094.1:c.42794A>G (TTN) | XP_024308862.1:p.Asp14265Gly | |
| XM_024453095.1:c.42791A>G (TTN) | XP_024308863.1:p.Asp14264Gly | |
| XM_024453096.1:c.42224A>G (TTN) | XP_024308864.1:p.Asp14075Gly | |
| XM_024453097.1:c.39566A>G (TTN) | XP_024308865.1:p.Asp13189Gly | |
| XM_024453098.1:c.39485A>G (TTN) | XP_024308866.1:p.Asp13162Gly | |
| XM_024453099.1:c.21248A>G (TTN) | XP_024308867.1:p.Asp7083Gly | |
| XM_024453100.1:c.11102A>G (TTN) | XP_024308868.1:p.Asp3701Gly |