Linked Data
ClinVar Variation Id:
202861
dbSNP Id:
rs199508062
ExAC:
2:179435498 T / C
gnomAD v2:
2-179435498-T-C
gnomAD v3:
2-178570771-T-C
gnomAD v4:
2-178570771-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570771T>C , CM000664.2:g.178570771T>C | GRCh38 |
| NC_000002.11:g.179435498T>C , CM000664.1:g.179435498T>C | GRCh37 |
| NC_000002.10:g.179143744T>C | NCBI36 |
| NG_011618.3:g.265032A>G , LRG_391:g.265032A>G | |
| NG_051363.1:g.52945T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67657A>G (TTN) | ENSP00000343764.6:p.Ile22553Val | |
| ENST00000342175.11:c.48742A>G (TTN) | ENSP00000340554.6:p.Ile16248Val | |
| ENST00000359218.10:c.48541A>G (TTN) | ENSP00000352154.5:p.Ile16181Val | |
| ENST00000342175.10:c.48742A>G (TTN) | ENSP00000340554.6:p.Ile16248Val | |
| ENST00000342992.10:c.67657A>G (TTN) | ENSP00000343764.6:p.Ile22553Val | |
| ENST00000359218.9:c.48541A>G (TTN) | ENSP00000352154.5:p.Ile16181Val | |
| ENST00000460472.6:c.48166A>G (TTN) | ENSP00000434586.1:p.Ile16056Val | |
| ENST00000589042.5:c.75361A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile25121Val | |
| ENST00000591111.5:c.70438A>G (TTN) | ENSP00000465570.1:p.Ile23480Val | |
| ENST00000615779.4:c.70438A>G (TTN) | ENSP00000483597.1:p.Ile23480Val | |
| NM_001256850.1:c.70438A>G (TTN) | NP_001243779.1:p.Ile23480Val | |
| NM_001267550.2:c.75361A>G (TTN) MANE Select | NP_001254479.2:p.Ile25121Val | |
| NM_003319.4:c.48166A>G (TTN) | NP_003310.4:p.Ile16056Val | |
| NM_133378.4:c.67657A>G (TTN) | NP_596869.4:p.Ile22553Val | |
| NM_133432.3:c.48541A>G (TTN) | NP_597676.3:p.Ile16181Val | |
| NM_133437.4:c.48742A>G (TTN) | NP_597681.4:p.Ile16248Val | |
| NR_038271.1:n.447-529T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-11801T>C (TTN-AS1) | ||
| XM_011511729.1:c.74458A>G (TTN) | XP_011510031.1:p.Ile24820Val | |
| XM_011511730.1:c.48352A>G (TTN) | XP_011510032.1:p.Ile16118Val | |
| XM_011511731.1:c.48211A>G (TTN) | XP_011510033.1:p.Ile16071Val | |
| XM_017004819.1:c.74254A>G (TTN) | XP_016860308.1:p.Ile24752Val | |
| XM_017004820.1:c.69652A>G (TTN) | XP_016860309.1:p.Ile23218Val | |
| XM_017004821.1:c.69649A>G (TTN) | XP_016860310.1:p.Ile23217Val | |
| XM_017004822.1:c.66691A>G (TTN) | XP_016860311.1:p.Ile22231Val | |
| XM_017004823.1:c.48307A>G (TTN) | XP_016860312.1:p.Ile16103Val | |
| XM_024453094.1:c.69802A>G (TTN) | XP_024308862.1:p.Ile23268Val | |
| XM_024453095.1:c.69799A>G (TTN) | XP_024308863.1:p.Ile23267Val | |
| XM_024453096.1:c.69232A>G (TTN) | XP_024308864.1:p.Ile23078Val | |
| XM_024453097.1:c.66574A>G (TTN) | XP_024308865.1:p.Ile22192Val | |
| XM_024453098.1:c.66493A>G (TTN) | XP_024308866.1:p.Ile22165Val | |
| XM_024453099.1:c.48256A>G (TTN) | XP_024308867.1:p.Ile16086Val | |
| XM_024453100.1:c.38110A>G (TTN) | XP_024308868.1:p.Ile12704Val |