Linked Data
ClinVar Variation Id:
501172
dbSNP Id:
rs374335905
ExAC:
2:179468937 G / C
gnomAD v2:
2-179468937-G-C
gnomAD v3:
2-178604210-G-C
gnomAD v4:
2-178604210-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604210G>C , CM000664.2:g.178604210G>C | GRCh38 |
| NC_000002.11:g.179468937G>C , CM000664.1:g.179468937G>C | GRCh37 |
| NC_000002.10:g.179177182G>C | NCBI36 |
| NG_011618.3:g.231593C>G , LRG_391:g.231593C>G | |
| NG_051363.1:g.86384G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46773C>G (TTN) | ENSP00000343764.6:p.Val15591= | |
| ENST00000342175.11:c.27858C>G (TTN) | ENSP00000340554.6:p.Val9286= | |
| ENST00000359218.10:c.27657C>G (TTN) | ENSP00000352154.5:p.Val9219= | |
| ENST00000342175.10:c.27858C>G (TTN) | ENSP00000340554.6:p.Val9286= | |
| ENST00000342992.10:c.46773C>G (TTN) | ENSP00000343764.6:p.Val15591= | |
| ENST00000359218.9:c.27657C>G (TTN) | ENSP00000352154.5:p.Val9219= | |
| ENST00000460472.6:c.27282C>G (TTN) | ENSP00000434586.1:p.Val9094= | |
| ENST00000589042.5:c.54477C>G (TTN) MANE Select | ENSP00000467141.1:p.Val18159= | |
| ENST00000591111.5:c.49554C>G (TTN) | ENSP00000465570.1:p.Val16518= | |
| ENST00000615779.4:c.49554C>G (TTN) | ENSP00000483597.1:p.Val16518= | |
| NM_001256850.1:c.49554C>G (TTN) | NP_001243779.1:p.Val16518= | |
| NM_001267550.2:c.54477C>G (TTN) MANE Select | NP_001254479.2:p.Val18159= | |
| NM_003319.4:c.27282C>G (TTN) | NP_003310.4:p.Val9094= | |
| NM_133378.4:c.46773C>G (TTN) | NP_596869.4:p.Val15591= | |
| NM_133432.3:c.27657C>G (TTN) | NP_597676.3:p.Val9219= | |
| NM_133437.4:c.27858C>G (TTN) | NP_597681.4:p.Val9286= | |
| NR_038271.1:n.683-3957G>C (TTN-AS1) | ||
| NR_038272.1:n.3918-521G>C (TTN-AS1) | ||
| XM_011511729.1:c.53574C>G (TTN) | XP_011510031.1:p.Val17858= | |
| XM_011511730.1:c.27468C>G (TTN) | XP_011510032.1:p.Val9156= | |
| XM_011511731.1:c.27327C>G (TTN) | XP_011510033.1:p.Val9109= | |
| XM_017004819.1:c.53370C>G (TTN) | XP_016860308.1:p.Val17790= | |
| XM_017004820.1:c.48768C>G (TTN) | XP_016860309.1:p.Val16256= | |
| XM_017004821.1:c.48765C>G (TTN) | XP_016860310.1:p.Val16255= | |
| XM_017004822.1:c.45807C>G (TTN) | XP_016860311.1:p.Val15269= | |
| XM_017004823.1:c.27423C>G (TTN) | XP_016860312.1:p.Val9141= | |
| XM_024453094.1:c.48918C>G (TTN) | XP_024308862.1:p.Val16306= | |
| XM_024453095.1:c.48915C>G (TTN) | XP_024308863.1:p.Val16305= | |
| XM_024453096.1:c.48348C>G (TTN) | XP_024308864.1:p.Val16116= | |
| XM_024453097.1:c.45690C>G (TTN) | XP_024308865.1:p.Val15230= | |
| XM_024453098.1:c.45609C>G (TTN) | XP_024308866.1:p.Val15203= | |
| XM_024453099.1:c.27372C>G (TTN) | XP_024308867.1:p.Val9124= | |
| XM_024453100.1:c.17226C>G (TTN) | XP_024308868.1:p.Val5742= |