Linked Data
ClinVar Variation Id:
47684
ClinVar RCV Id:
RCV000040953
RCV000245839
RCV000299511
RCV000357713
RCV000302886
RCV000398040
RCV000398033
RCV000461324
RCV000993378
dbSNP Id:
rs56308529
ExAC:
2:179396162 C / G
gnomAD v2:
2-179396162-C-G
gnomAD v3:
2-178531435-C-G
gnomAD v4:
2-178531435-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531435C>G , CM000664.2:g.178531435C>G | GRCh38 |
| NC_000002.11:g.179396162C>G , CM000664.1:g.179396162C>G | GRCh37 |
| NC_000002.10:g.179104408C>G | NCBI36 |
| NG_011618.3:g.304368G>C , LRG_391:g.304368G>C | |
| NG_051363.1:g.13609C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97476G>C (TTN) | ENSP00000343764.6:p.Glu32492Asp | |
| ENST00000342175.11:c.78561G>C (TTN) | ENSP00000340554.6:p.Glu26187Asp | |
| ENST00000359218.10:c.78360G>C (TTN) | ENSP00000352154.5:p.Glu26120Asp | |
| ENST00000342175.10:c.78561G>C (TTN) | ENSP00000340554.6:p.Glu26187Asp | |
| ENST00000342992.10:c.97476G>C (TTN) | ENSP00000343764.6:p.Glu32492Asp | |
| ENST00000359218.9:c.78360G>C (TTN) | ENSP00000352154.5:p.Glu26120Asp | |
| ENST00000460472.6:c.77985G>C (TTN) | ENSP00000434586.1:p.Glu25995Asp | |
| ENST00000589042.5:c.105180G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu35060Asp | |
| ENST00000591111.5:c.100257G>C (TTN) | ENSP00000465570.1:p.Glu33419Asp | |
| ENST00000615779.4:c.100257G>C (TTN) | ENSP00000483597.1:p.Glu33419Asp | |
| NM_001256850.1:c.100257G>C (TTN) | NP_001243779.1:p.Glu33419Asp | |
| NM_001267550.2:c.105180G>C (TTN) MANE Select | NP_001254479.2:p.Glu35060Asp | |
| NM_003319.4:c.77985G>C (TTN) | NP_003310.4:p.Glu25995Asp | |
| NM_133378.4:c.97476G>C (TTN) | NP_596869.4:p.Glu32492Asp | |
| NM_133432.3:c.78360G>C (TTN) | NP_597676.3:p.Glu26120Asp | |
| NM_133437.4:c.78561G>C (TTN) | NP_597681.4:p.Glu26187Asp | |
| NR_038271.1:n.446+7799C>G (TTN-AS1) | ||
| NR_038272.1:n.220-4297C>G (TTN-AS1) | ||
| XM_011511729.1:c.104277G>C (TTN) | XP_011510031.1:p.Glu34759Asp | |
| XM_011511730.1:c.78171G>C (TTN) | XP_011510032.1:p.Glu26057Asp | |
| XM_011511731.1:c.78030G>C (TTN) | XP_011510033.1:p.Glu26010Asp | |
| XM_017004819.1:c.104073G>C (TTN) | XP_016860308.1:p.Glu34691Asp | |
| XM_017004820.1:c.99471G>C (TTN) | XP_016860309.1:p.Glu33157Asp | |
| XM_017004821.1:c.99468G>C (TTN) | XP_016860310.1:p.Glu33156Asp | |
| XM_017004822.1:c.96510G>C (TTN) | XP_016860311.1:p.Glu32170Asp | |
| XM_017004823.1:c.78126G>C (TTN) | XP_016860312.1:p.Glu26042Asp | |
| XM_024453094.1:c.99621G>C (TTN) | XP_024308862.1:p.Glu33207Asp | |
| XM_024453095.1:c.99618G>C (TTN) | XP_024308863.1:p.Glu33206Asp | |
| XM_024453096.1:c.99051G>C (TTN) | XP_024308864.1:p.Glu33017Asp | |
| XM_024453097.1:c.96393G>C (TTN) | XP_024308865.1:p.Glu32131Asp | |
| XM_024453098.1:c.96312G>C (TTN) | XP_024308866.1:p.Glu32104Asp | |
| XM_024453099.1:c.78075G>C (TTN) | XP_024308867.1:p.Glu26025Asp | |
| XM_024453100.1:c.67929G>C (TTN) | XP_024308868.1:p.Glu22643Asp |