Linked Data
ClinVar Variation Id:
47531
dbSNP Id:
rs202096200
ExAC:
2:179412986 C / G
gnomAD v2:
2-179412986-C-G
gnomAD v3:
2-178548259-C-G
gnomAD v4:
2-178548259-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548259C>G , CM000664.2:g.178548259C>G | GRCh38 |
| NC_000002.11:g.179412986C>G , CM000664.1:g.179412986C>G | GRCh37 |
| NC_000002.10:g.179121232C>G | NCBI36 |
| NG_011618.3:g.287544G>C , LRG_391:g.287544G>C | |
| NG_051363.1:g.30433C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.85663G>C (TTN) | ENSP00000343764.6:p.Val28555Leu | |
| ENST00000342175.11:c.66748G>C (TTN) | ENSP00000340554.6:p.Val22250Leu | |
| ENST00000359218.10:c.66547G>C (TTN) | ENSP00000352154.5:p.Val22183Leu | |
| ENST00000342175.10:c.66748G>C (TTN) | ENSP00000340554.6:p.Val22250Leu | |
| ENST00000342992.10:c.85663G>C (TTN) | ENSP00000343764.6:p.Val28555Leu | |
| ENST00000359218.9:c.66547G>C (TTN) | ENSP00000352154.5:p.Val22183Leu | |
| ENST00000460472.6:c.66172G>C (TTN) | ENSP00000434586.1:p.Val22058Leu | |
| ENST00000589042.5:c.93367G>C (TTN) MANE Select | ENSP00000467141.1:p.Val31123Leu | |
| ENST00000591111.5:c.88444G>C (TTN) | ENSP00000465570.1:p.Val29482Leu | |
| ENST00000615779.4:c.88444G>C (TTN) | ENSP00000483597.1:p.Val29482Leu | |
| NM_001256850.1:c.88444G>C (TTN) | NP_001243779.1:p.Val29482Leu | |
| NM_001267550.2:c.93367G>C (TTN) MANE Select | NP_001254479.2:p.Val31123Leu | |
| NM_003319.4:c.66172G>C (TTN) | NP_003310.4:p.Val22058Leu | |
| NM_133378.4:c.85663G>C (TTN) | NP_596869.4:p.Val28555Leu | |
| NM_133432.3:c.66547G>C (TTN) | NP_597676.3:p.Val22183Leu | |
| NM_133437.4:c.66748G>C (TTN) | NP_597681.4:p.Val22250Leu | |
| NR_038271.1:n.447-23041C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+5898C>G (TTN-AS1) | ||
| XM_011511729.1:c.92464G>C (TTN) | XP_011510031.1:p.Val30822Leu | |
| XM_011511730.1:c.66358G>C (TTN) | XP_011510032.1:p.Val22120Leu | |
| XM_011511731.1:c.66217G>C (TTN) | XP_011510033.1:p.Val22073Leu | |
| XM_017004819.1:c.92260G>C (TTN) | XP_016860308.1:p.Val30754Leu | |
| XM_017004820.1:c.87658G>C (TTN) | XP_016860309.1:p.Val29220Leu | |
| XM_017004821.1:c.87655G>C (TTN) | XP_016860310.1:p.Val29219Leu | |
| XM_017004822.1:c.84697G>C (TTN) | XP_016860311.1:p.Val28233Leu | |
| XM_017004823.1:c.66313G>C (TTN) | XP_016860312.1:p.Val22105Leu | |
| XM_024453094.1:c.87808G>C (TTN) | XP_024308862.1:p.Val29270Leu | |
| XM_024453095.1:c.87805G>C (TTN) | XP_024308863.1:p.Val29269Leu | |
| XM_024453096.1:c.87238G>C (TTN) | XP_024308864.1:p.Val29080Leu | |
| XM_024453097.1:c.84580G>C (TTN) | XP_024308865.1:p.Val28194Leu | |
| XM_024453098.1:c.84499G>C (TTN) | XP_024308866.1:p.Val28167Leu | |
| XM_024453099.1:c.66262G>C (TTN) | XP_024308867.1:p.Val22088Leu | |
| XM_024453100.1:c.56116G>C (TTN) | XP_024308868.1:p.Val18706Leu |