Linked Data
ClinVar Variation Id:
191841
ClinVar RCV Id:
RCV000172182
RCV001087902
RCV001130177
RCV001130176
RCV001130178
RCV001135208
RCV001135209
RCV003226236
RCV002362884
dbSNP Id:
rs184922462
ExAC:
2:179407152 C / G
gnomAD v2:
2-179407152-C-G
gnomAD v3:
2-178542425-C-G
gnomAD v4:
2-178542425-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542425C>G , CM000664.2:g.178542425C>G | GRCh38 |
| NC_000002.11:g.179407152C>G , CM000664.1:g.179407152C>G | GRCh37 |
| NC_000002.10:g.179115398C>G | NCBI36 |
| NG_011618.3:g.293378G>C , LRG_391:g.293378G>C | |
| NG_051363.1:g.24599C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89627G>C (TTN) | ENSP00000343764.6:p.Arg29876Pro | |
| ENST00000342175.11:c.70712G>C (TTN) | ENSP00000340554.6:p.Arg23571Pro | |
| ENST00000359218.10:c.70511G>C (TTN) | ENSP00000352154.5:p.Arg23504Pro | |
| ENST00000342175.10:c.70712G>C (TTN) | ENSP00000340554.6:p.Arg23571Pro | |
| ENST00000342992.10:c.89627G>C (TTN) | ENSP00000343764.6:p.Arg29876Pro | |
| ENST00000359218.9:c.70511G>C (TTN) | ENSP00000352154.5:p.Arg23504Pro | |
| ENST00000460472.6:c.70136G>C (TTN) | ENSP00000434586.1:p.Arg23379Pro | |
| ENST00000589042.5:c.97331G>C (TTN) MANE Select | ENSP00000467141.1:p.Arg32444Pro | |
| ENST00000591111.5:c.92408G>C (TTN) | ENSP00000465570.1:p.Arg30803Pro | |
| ENST00000615779.4:c.92408G>C (TTN) | ENSP00000483597.1:p.Arg30803Pro | |
| NM_001256850.1:c.92408G>C (TTN) | NP_001243779.1:p.Arg30803Pro | |
| NM_001267550.2:c.97331G>C (TTN) MANE Select | NP_001254479.2:p.Arg32444Pro | |
| NM_003319.4:c.70136G>C (TTN) | NP_003310.4:p.Arg23379Pro | |
| NM_133378.4:c.89627G>C (TTN) | NP_596869.4:p.Arg29876Pro | |
| NM_133432.3:c.70511G>C (TTN) | NP_597676.3:p.Arg23504Pro | |
| NM_133437.4:c.70712G>C (TTN) | NP_597681.4:p.Arg23571Pro | |
| NR_038271.1:n.446+18789C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+64C>G (TTN-AS1) | ||
| XM_011511729.1:c.96428G>C (TTN) | XP_011510031.1:p.Arg32143Pro | |
| XM_011511730.1:c.70322G>C (TTN) | XP_011510032.1:p.Arg23441Pro | |
| XM_011511731.1:c.70181G>C (TTN) | XP_011510033.1:p.Arg23394Pro | |
| XM_017004819.1:c.96224G>C (TTN) | XP_016860308.1:p.Arg32075Pro | |
| XM_017004820.1:c.91622G>C (TTN) | XP_016860309.1:p.Arg30541Pro | |
| XM_017004821.1:c.91619G>C (TTN) | XP_016860310.1:p.Arg30540Pro | |
| XM_017004822.1:c.88661G>C (TTN) | XP_016860311.1:p.Arg29554Pro | |
| XM_017004823.1:c.70277G>C (TTN) | XP_016860312.1:p.Arg23426Pro | |
| XM_024453094.1:c.91772G>C (TTN) | XP_024308862.1:p.Arg30591Pro | |
| XM_024453095.1:c.91769G>C (TTN) | XP_024308863.1:p.Arg30590Pro | |
| XM_024453096.1:c.91202G>C (TTN) | XP_024308864.1:p.Arg30401Pro | |
| XM_024453097.1:c.88544G>C (TTN) | XP_024308865.1:p.Arg29515Pro | |
| XM_024453098.1:c.88463G>C (TTN) | XP_024308866.1:p.Arg29488Pro | |
| XM_024453099.1:c.70226G>C (TTN) | XP_024308867.1:p.Arg23409Pro | |
| XM_024453100.1:c.60080G>C (TTN) | XP_024308868.1:p.Arg20027Pro |