Linked Data
ClinVar Variation Id:
165860
dbSNP Id:
rs367914610
ExAC:
2:179440757 T / C
gnomAD v2:
2-179440757-T-C
gnomAD v3:
2-178576030-T-C
gnomAD v4:
2-178576030-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576030T>C , CM000664.2:g.178576030T>C | GRCh38 |
| NC_000002.11:g.179440757T>C , CM000664.1:g.179440757T>C | GRCh37 |
| NC_000002.10:g.179149003T>C | NCBI36 |
| NG_011618.3:g.259773A>G , LRG_391:g.259773A>G | |
| NG_051363.1:g.58204T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62398A>G (TTN) | ENSP00000343764.6:p.Ile20800Val | |
| ENST00000342175.11:c.43483A>G (TTN) | ENSP00000340554.6:p.Ile14495Val | |
| ENST00000359218.10:c.43282A>G (TTN) | ENSP00000352154.5:p.Ile14428Val | |
| ENST00000342175.10:c.43483A>G (TTN) | ENSP00000340554.6:p.Ile14495Val | |
| ENST00000342992.10:c.62398A>G (TTN) | ENSP00000343764.6:p.Ile20800Val | |
| ENST00000359218.9:c.43282A>G (TTN) | ENSP00000352154.5:p.Ile14428Val | |
| ENST00000460472.6:c.42907A>G (TTN) | ENSP00000434586.1:p.Ile14303Val | |
| ENST00000589042.5:c.70102A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile23368Val | |
| ENST00000591111.5:c.65179A>G (TTN) | ENSP00000465570.1:p.Ile21727Val | |
| ENST00000615779.4:c.65179A>G (TTN) | ENSP00000483597.1:p.Ile21727Val | |
| NM_001256850.1:c.65179A>G (TTN) | NP_001243779.1:p.Ile21727Val | |
| NM_001267550.2:c.70102A>G (TTN) MANE Select | NP_001254479.2:p.Ile23368Val | |
| NM_003319.4:c.42907A>G (TTN) | NP_003310.4:p.Ile14303Val | |
| NM_133378.4:c.62398A>G (TTN) | NP_596869.4:p.Ile20800Val | |
| NM_133432.3:c.43282A>G (TTN) | NP_597676.3:p.Ile14428Val | |
| NM_133437.4:c.43483A>G (TTN) | NP_597681.4:p.Ile14495Val | |
| NR_038271.1:n.596+4581T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-6542T>C (TTN-AS1) | ||
| XM_011511729.1:c.69199A>G (TTN) | XP_011510031.1:p.Ile23067Val | |
| XM_011511730.1:c.43093A>G (TTN) | XP_011510032.1:p.Ile14365Val | |
| XM_011511731.1:c.42952A>G (TTN) | XP_011510033.1:p.Ile14318Val | |
| XM_017004819.1:c.68995A>G (TTN) | XP_016860308.1:p.Ile22999Val | |
| XM_017004820.1:c.64393A>G (TTN) | XP_016860309.1:p.Ile21465Val | |
| XM_017004821.1:c.64390A>G (TTN) | XP_016860310.1:p.Ile21464Val | |
| XM_017004822.1:c.61432A>G (TTN) | XP_016860311.1:p.Ile20478Val | |
| XM_017004823.1:c.43048A>G (TTN) | XP_016860312.1:p.Ile14350Val | |
| XM_024453094.1:c.64543A>G (TTN) | XP_024308862.1:p.Ile21515Val | |
| XM_024453095.1:c.64540A>G (TTN) | XP_024308863.1:p.Ile21514Val | |
| XM_024453096.1:c.63973A>G (TTN) | XP_024308864.1:p.Ile21325Val | |
| XM_024453097.1:c.61315A>G (TTN) | XP_024308865.1:p.Ile20439Val | |
| XM_024453098.1:c.61234A>G (TTN) | XP_024308866.1:p.Ile20412Val | |
| XM_024453099.1:c.42997A>G (TTN) | XP_024308867.1:p.Ile14333Val | |
| XM_024453100.1:c.32851A>G (TTN) | XP_024308868.1:p.Ile10951Val |