Linked Data
ClinVar Variation Id:
501822
dbSNP Id:
rs770335539
ExAC:
2:179453608 A / C
gnomAD v2:
2-179453608-A-C
gnomAD v3:
2-178588881-A-C
gnomAD v4:
2-178588881-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588881A>C , CM000664.2:g.178588881A>C | GRCh38 |
| NC_000002.11:g.179453608A>C , CM000664.1:g.179453608A>C | GRCh37 |
| NC_000002.10:g.179161854A>C | NCBI36 |
| NG_011618.3:g.246922T>G , LRG_391:g.246922T>G | |
| NG_051363.1:g.71055A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55140T>G (TTN) | ENSP00000343764.6:p.Pro18380= | |
| ENST00000342175.11:c.36225T>G (TTN) | ENSP00000340554.6:p.Pro12075= | |
| ENST00000359218.10:c.36024T>G (TTN) | ENSP00000352154.5:p.Pro12008= | |
| ENST00000342175.10:c.36225T>G (TTN) | ENSP00000340554.6:p.Pro12075= | |
| ENST00000342992.10:c.55140T>G (TTN) | ENSP00000343764.6:p.Pro18380= | |
| ENST00000359218.9:c.36024T>G (TTN) | ENSP00000352154.5:p.Pro12008= | |
| ENST00000460472.6:c.35649T>G (TTN) | ENSP00000434586.1:p.Pro11883= | |
| ENST00000589042.5:c.62844T>G (TTN) MANE Select | ENSP00000467141.1:p.Pro20948= | |
| ENST00000591111.5:c.57921T>G (TTN) | ENSP00000465570.1:p.Pro19307= | |
| ENST00000615779.4:c.57921T>G (TTN) | ENSP00000483597.1:p.Pro19307= | |
| NM_001256850.1:c.57921T>G (TTN) | NP_001243779.1:p.Pro19307= | |
| NM_001267550.2:c.62844T>G (TTN) MANE Select | NP_001254479.2:p.Pro20948= | |
| NM_003319.4:c.35649T>G (TTN) | NP_003310.4:p.Pro11883= | |
| NM_133378.4:c.55140T>G (TTN) | NP_596869.4:p.Pro18380= | |
| NM_133432.3:c.36024T>G (TTN) | NP_597676.3:p.Pro12008= | |
| NM_133437.4:c.36225T>G (TTN) | NP_597681.4:p.Pro12075= | |
| NR_038271.1:n.597-8715A>C (TTN-AS1) | ||
| NR_038272.1:n.3189-2258A>C (TTN-AS1) | ||
| XM_011511729.1:c.61941T>G (TTN) | XP_011510031.1:p.Pro20647= | |
| XM_011511730.1:c.35835T>G (TTN) | XP_011510032.1:p.Pro11945= | |
| XM_011511731.1:c.35694T>G (TTN) | XP_011510033.1:p.Pro11898= | |
| XM_017004819.1:c.61737T>G (TTN) | XP_016860308.1:p.Pro20579= | |
| XM_017004820.1:c.57135T>G (TTN) | XP_016860309.1:p.Pro19045= | |
| XM_017004821.1:c.57132T>G (TTN) | XP_016860310.1:p.Pro19044= | |
| XM_017004822.1:c.54174T>G (TTN) | XP_016860311.1:p.Pro18058= | |
| XM_017004823.1:c.35790T>G (TTN) | XP_016860312.1:p.Pro11930= | |
| XM_024453094.1:c.57285T>G (TTN) | XP_024308862.1:p.Pro19095= | |
| XM_024453095.1:c.57282T>G (TTN) | XP_024308863.1:p.Pro19094= | |
| XM_024453096.1:c.56715T>G (TTN) | XP_024308864.1:p.Pro18905= | |
| XM_024453097.1:c.54057T>G (TTN) | XP_024308865.1:p.Pro18019= | |
| XM_024453098.1:c.53976T>G (TTN) | XP_024308866.1:p.Pro17992= | |
| XM_024453099.1:c.35739T>G (TTN) | XP_024308867.1:p.Pro11913= | |
| XM_024453100.1:c.25593T>G (TTN) | XP_024308868.1:p.Pro8531= |