Linked Data
ClinVar Variation Id:
467569
dbSNP Id:
rs777939514
gnomAD v2:
2-179425431-T-C
gnomAD v3:
2-178560704-T-C
gnomAD v4:
2-178560704-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560704T>C , CM000664.2:g.178560704T>C | GRCh38 |
| NC_000002.11:g.179425431T>C , CM000664.1:g.179425431T>C | GRCh37 |
| NC_000002.10:g.179133677T>C | NCBI36 |
| NG_011618.3:g.275099A>G , LRG_391:g.275099A>G | |
| NG_051363.1:g.42878T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77724A>G (TTN) | ENSP00000343764.6:p.Gln25908= | |
| ENST00000342175.11:c.58809A>G (TTN) | ENSP00000340554.6:p.Gln19603= | |
| ENST00000359218.10:c.58608A>G (TTN) | ENSP00000352154.5:p.Gln19536= | |
| ENST00000342175.10:c.58809A>G (TTN) | ENSP00000340554.6:p.Gln19603= | |
| ENST00000342992.10:c.77724A>G (TTN) | ENSP00000343764.6:p.Gln25908= | |
| ENST00000359218.9:c.58608A>G (TTN) | ENSP00000352154.5:p.Gln19536= | |
| ENST00000460472.6:c.58233A>G (TTN) | ENSP00000434586.1:p.Gln19411= | |
| ENST00000589042.5:c.85428A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln28476= | |
| ENST00000591111.5:c.80505A>G (TTN) | ENSP00000465570.1:p.Gln26835= | |
| ENST00000615779.4:c.80505A>G (TTN) | ENSP00000483597.1:p.Gln26835= | |
| NM_001256850.1:c.80505A>G (TTN) | NP_001243779.1:p.Gln26835= | |
| NM_001267550.2:c.85428A>G (TTN) MANE Select | NP_001254479.2:p.Gln28476= | |
| NM_003319.4:c.58233A>G (TTN) | NP_003310.4:p.Gln19411= | |
| NM_133378.4:c.77724A>G (TTN) | NP_596869.4:p.Gln25908= | |
| NM_133432.3:c.58608A>G (TTN) | NP_597676.3:p.Gln19536= | |
| NM_133437.4:c.58809A>G (TTN) | NP_597681.4:p.Gln19603= | |
| NR_038271.1:n.447-10596T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+18343T>C (TTN-AS1) | ||
| XM_011511729.1:c.84525A>G (TTN) | XP_011510031.1:p.Gln28175= | |
| XM_011511730.1:c.58419A>G (TTN) | XP_011510032.1:p.Gln19473= | |
| XM_011511731.1:c.58278A>G (TTN) | XP_011510033.1:p.Gln19426= | |
| XM_017004819.1:c.84321A>G (TTN) | XP_016860308.1:p.Gln28107= | |
| XM_017004820.1:c.79719A>G (TTN) | XP_016860309.1:p.Gln26573= | |
| XM_017004821.1:c.79716A>G (TTN) | XP_016860310.1:p.Gln26572= | |
| XM_017004822.1:c.76758A>G (TTN) | XP_016860311.1:p.Gln25586= | |
| XM_017004823.1:c.58374A>G (TTN) | XP_016860312.1:p.Gln19458= | |
| XM_024453094.1:c.79869A>G (TTN) | XP_024308862.1:p.Gln26623= | |
| XM_024453095.1:c.79866A>G (TTN) | XP_024308863.1:p.Gln26622= | |
| XM_024453096.1:c.79299A>G (TTN) | XP_024308864.1:p.Gln26433= | |
| XM_024453097.1:c.76641A>G (TTN) | XP_024308865.1:p.Gln25547= | |
| XM_024453098.1:c.76560A>G (TTN) | XP_024308866.1:p.Gln25520= | |
| XM_024453099.1:c.58323A>G (TTN) | XP_024308867.1:p.Gln19441= | |
| XM_024453100.1:c.48177A>G (TTN) | XP_024308868.1:p.Gln16059= |