Linked Data
ClinVar Variation Id:
467653
dbSNP Id:
rs373732722
ExAC:
2:179413030 A / G
gnomAD v2:
2-179413030-A-G
gnomAD v3:
2-178548303-A-G
gnomAD v4:
2-178548303-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548303A>G , CM000664.2:g.178548303A>G | GRCh38 |
| NC_000002.11:g.179413030A>G , CM000664.1:g.179413030A>G | GRCh37 |
| NC_000002.10:g.179121276A>G | NCBI36 |
| NG_011618.3:g.287500T>C , LRG_391:g.287500T>C | |
| NG_051363.1:g.30477A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85619T>C (TTN) | ENSP00000343764.6:p.Ile28540Thr | |
| ENST00000342175.11:c.66704T>C (TTN) | ENSP00000340554.6:p.Ile22235Thr | |
| ENST00000359218.10:c.66503T>C (TTN) | ENSP00000352154.5:p.Ile22168Thr | |
| ENST00000342175.10:c.66704T>C (TTN) | ENSP00000340554.6:p.Ile22235Thr | |
| ENST00000342992.10:c.85619T>C (TTN) | ENSP00000343764.6:p.Ile28540Thr | |
| ENST00000359218.9:c.66503T>C (TTN) | ENSP00000352154.5:p.Ile22168Thr | |
| ENST00000460472.6:c.66128T>C (TTN) | ENSP00000434586.1:p.Ile22043Thr | |
| ENST00000589042.5:c.93323T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile31108Thr | |
| ENST00000591111.5:c.88400T>C (TTN) | ENSP00000465570.1:p.Ile29467Thr | |
| ENST00000615779.4:c.88400T>C (TTN) | ENSP00000483597.1:p.Ile29467Thr | |
| NM_001256850.1:c.88400T>C (TTN) | NP_001243779.1:p.Ile29467Thr | |
| NM_001267550.2:c.93323T>C (TTN) MANE Select | NP_001254479.2:p.Ile31108Thr | |
| NM_003319.4:c.66128T>C (TTN) | NP_003310.4:p.Ile22043Thr | |
| NM_133378.4:c.85619T>C (TTN) | NP_596869.4:p.Ile28540Thr | |
| NM_133432.3:c.66503T>C (TTN) | NP_597676.3:p.Ile22168Thr | |
| NM_133437.4:c.66704T>C (TTN) | NP_597681.4:p.Ile22235Thr | |
| NR_038271.1:n.447-22997A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+5942A>G (TTN-AS1) | ||
| XM_011511729.1:c.92420T>C (TTN) | XP_011510031.1:p.Ile30807Thr | |
| XM_011511730.1:c.66314T>C (TTN) | XP_011510032.1:p.Ile22105Thr | |
| XM_011511731.1:c.66173T>C (TTN) | XP_011510033.1:p.Ile22058Thr | |
| XM_017004819.1:c.92216T>C (TTN) | XP_016860308.1:p.Ile30739Thr | |
| XM_017004820.1:c.87614T>C (TTN) | XP_016860309.1:p.Ile29205Thr | |
| XM_017004821.1:c.87611T>C (TTN) | XP_016860310.1:p.Ile29204Thr | |
| XM_017004822.1:c.84653T>C (TTN) | XP_016860311.1:p.Ile28218Thr | |
| XM_017004823.1:c.66269T>C (TTN) | XP_016860312.1:p.Ile22090Thr | |
| XM_024453094.1:c.87764T>C (TTN) | XP_024308862.1:p.Ile29255Thr | |
| XM_024453095.1:c.87761T>C (TTN) | XP_024308863.1:p.Ile29254Thr | |
| XM_024453096.1:c.87194T>C (TTN) | XP_024308864.1:p.Ile29065Thr | |
| XM_024453097.1:c.84536T>C (TTN) | XP_024308865.1:p.Ile28179Thr | |
| XM_024453098.1:c.84455T>C (TTN) | XP_024308866.1:p.Ile28152Thr | |
| XM_024453099.1:c.66218T>C (TTN) | XP_024308867.1:p.Ile22073Thr | |
| XM_024453100.1:c.56072T>C (TTN) | XP_024308868.1:p.Ile18691Thr |