Linked Data
ClinVar Variation Id:
47589
ClinVar RCV Id:
RCV000040858
RCV000172611
RCV000248871
RCV000282930
RCV000291082
RCV000322814
RCV000379720
RCV000383122
RCV000769863
RCV001086482
RCV001293119
dbSNP Id:
rs55704830
ExAC:
2:179406044 C / G
gnomAD v2:
2-179406044-C-G
gnomAD v3:
2-178541317-C-G
gnomAD v4:
2-178541317-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541317C>G , CM000664.2:g.178541317C>G | GRCh38 |
| NC_000002.11:g.179406044C>G , CM000664.1:g.179406044C>G | GRCh37 |
| NC_000002.10:g.179114290C>G | NCBI36 |
| NG_011618.3:g.294486G>C , LRG_391:g.294486G>C | |
| NG_051363.1:g.23491C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90056G>C (TTN) | ENSP00000343764.6:p.Arg30019Pro | |
| ENST00000342175.11:c.71141G>C (TTN) | ENSP00000340554.6:p.Arg23714Pro | |
| ENST00000359218.10:c.70940G>C (TTN) | ENSP00000352154.5:p.Arg23647Pro | |
| ENST00000342175.10:c.71141G>C (TTN) | ENSP00000340554.6:p.Arg23714Pro | |
| ENST00000342992.10:c.90056G>C (TTN) | ENSP00000343764.6:p.Arg30019Pro | |
| ENST00000359218.9:c.70940G>C (TTN) | ENSP00000352154.5:p.Arg23647Pro | |
| ENST00000460472.6:c.70565G>C (TTN) | ENSP00000434586.1:p.Arg23522Pro | |
| ENST00000589042.5:c.97760G>C (TTN) MANE Select | ENSP00000467141.1:p.Arg32587Pro | |
| ENST00000591111.5:c.92837G>C (TTN) | ENSP00000465570.1:p.Arg30946Pro | |
| ENST00000615779.4:c.92837G>C (TTN) | ENSP00000483597.1:p.Arg30946Pro | |
| NM_001256850.1:c.92837G>C (TTN) | NP_001243779.1:p.Arg30946Pro | |
| NM_001267550.2:c.97760G>C (TTN) MANE Select | NP_001254479.2:p.Arg32587Pro | |
| NM_003319.4:c.70565G>C (TTN) | NP_003310.4:p.Arg23522Pro | |
| NM_133378.4:c.90056G>C (TTN) | NP_596869.4:p.Arg30019Pro | |
| NM_133432.3:c.70940G>C (TTN) | NP_597676.3:p.Arg23647Pro | |
| NM_133437.4:c.71141G>C (TTN) | NP_597681.4:p.Arg23714Pro | |
| NR_038271.1:n.446+17681C>G (TTN-AS1) | ||
| NR_038272.1:n.1904-905C>G (TTN-AS1) | ||
| XM_011511729.1:c.96857G>C (TTN) | XP_011510031.1:p.Arg32286Pro | |
| XM_011511730.1:c.70751G>C (TTN) | XP_011510032.1:p.Arg23584Pro | |
| XM_011511731.1:c.70610G>C (TTN) | XP_011510033.1:p.Arg23537Pro | |
| XM_017004819.1:c.96653G>C (TTN) | XP_016860308.1:p.Arg32218Pro | |
| XM_017004820.1:c.92051G>C (TTN) | XP_016860309.1:p.Arg30684Pro | |
| XM_017004821.1:c.92048G>C (TTN) | XP_016860310.1:p.Arg30683Pro | |
| XM_017004822.1:c.89090G>C (TTN) | XP_016860311.1:p.Arg29697Pro | |
| XM_017004823.1:c.70706G>C (TTN) | XP_016860312.1:p.Arg23569Pro | |
| XM_024453094.1:c.92201G>C (TTN) | XP_024308862.1:p.Arg30734Pro | |
| XM_024453095.1:c.92198G>C (TTN) | XP_024308863.1:p.Arg30733Pro | |
| XM_024453096.1:c.91631G>C (TTN) | XP_024308864.1:p.Arg30544Pro | |
| XM_024453097.1:c.88973G>C (TTN) | XP_024308865.1:p.Arg29658Pro | |
| XM_024453098.1:c.88892G>C (TTN) | XP_024308866.1:p.Arg29631Pro | |
| XM_024453099.1:c.70655G>C (TTN) | XP_024308867.1:p.Arg23552Pro | |
| XM_024453100.1:c.60509G>C (TTN) | XP_024308868.1:p.Arg20170Pro |