Linked Data
ClinVar Variation Id:
1394301
ClinVar RCV Id:
RCV001884767
dbSNP Id:
rs780037060
ExAC:
2:179395285 C / G
gnomAD v2:
2-179395285-C-G
gnomAD v4:
2-178530558-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530558C>G , CM000664.2:g.178530558C>G | GRCh38 |
| NC_000002.11:g.179395285C>G , CM000664.1:g.179395285C>G | GRCh37 |
| NC_000002.10:g.179103531C>G | NCBI36 |
| NG_011618.3:g.305245G>C , LRG_391:g.305245G>C | |
| NG_051363.1:g.12732C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98353G>C (TTN) | ENSP00000343764.6:p.Asp32785His | |
| ENST00000342175.11:c.79438G>C (TTN) | ENSP00000340554.6:p.Asp26480His | |
| ENST00000359218.10:c.79237G>C (TTN) | ENSP00000352154.5:p.Asp26413His | |
| ENST00000342175.10:c.79438G>C (TTN) | ENSP00000340554.6:p.Asp26480His | |
| ENST00000342992.10:c.98353G>C (TTN) | ENSP00000343764.6:p.Asp32785His | |
| ENST00000359218.9:c.79237G>C (TTN) | ENSP00000352154.5:p.Asp26413His | |
| ENST00000460472.6:c.78862G>C (TTN) | ENSP00000434586.1:p.Asp26288His | |
| ENST00000589042.5:c.106057G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp35353His | |
| ENST00000591111.5:c.101134G>C (TTN) | ENSP00000465570.1:p.Asp33712His | |
| ENST00000615779.4:c.101134G>C (TTN) | ENSP00000483597.1:p.Asp33712His | |
| NM_001256850.1:c.101134G>C (TTN) | NP_001243779.1:p.Asp33712His | |
| NM_001267550.2:c.106057G>C (TTN) MANE Select | NP_001254479.2:p.Asp35353His | |
| NM_003319.4:c.78862G>C (TTN) | NP_003310.4:p.Asp26288His | |
| NM_133378.4:c.98353G>C (TTN) | NP_596869.4:p.Asp32785His | |
| NM_133432.3:c.79237G>C (TTN) | NP_597676.3:p.Asp26413His | |
| NM_133437.4:c.79438G>C (TTN) | NP_597681.4:p.Asp26480His | |
| NR_038271.1:n.446+6922C>G (TTN-AS1) | ||
| NR_038272.1:n.220-5174C>G (TTN-AS1) | ||
| XM_011511729.1:c.105154G>C (TTN) | XP_011510031.1:p.Asp35052His | |
| XM_011511730.1:c.79048G>C (TTN) | XP_011510032.1:p.Asp26350His | |
| XM_011511731.1:c.78907G>C (TTN) | XP_011510033.1:p.Asp26303His | |
| XM_017004819.1:c.104950G>C (TTN) | XP_016860308.1:p.Asp34984His | |
| XM_017004820.1:c.100348G>C (TTN) | XP_016860309.1:p.Asp33450His | |
| XM_017004821.1:c.100345G>C (TTN) | XP_016860310.1:p.Asp33449His | |
| XM_017004822.1:c.97387G>C (TTN) | XP_016860311.1:p.Asp32463His | |
| XM_017004823.1:c.79003G>C (TTN) | XP_016860312.1:p.Asp26335His | |
| XM_024453094.1:c.100498G>C (TTN) | XP_024308862.1:p.Asp33500His | |
| XM_024453095.1:c.100495G>C (TTN) | XP_024308863.1:p.Asp33499His | |
| XM_024453096.1:c.99928G>C (TTN) | XP_024308864.1:p.Asp33310His | |
| XM_024453097.1:c.97270G>C (TTN) | XP_024308865.1:p.Asp32424His | |
| XM_024453098.1:c.97189G>C (TTN) | XP_024308866.1:p.Asp32397His | |
| XM_024453099.1:c.78952G>C (TTN) | XP_024308867.1:p.Asp26318His | |
| XM_024453100.1:c.68806G>C (TTN) | XP_024308868.1:p.Asp22936His |