Linked Data
ClinVar Variation Id:
332762
dbSNP Id:
rs542799302
ExAC:
2:179429642 G / A
gnomAD v2:
2-179429642-G-A
gnomAD v3:
2-178564915-G-A
gnomAD v4:
2-178564915-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564915G>A , CM000664.2:g.178564915G>A | GRCh38 |
| NC_000002.11:g.179429642G>A , CM000664.1:g.179429642G>A | GRCh37 |
| NC_000002.10:g.179137888G>A | NCBI36 |
| NG_011618.3:g.270888C>T , LRG_391:g.270888C>T | |
| NG_051363.1:g.47089G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73513C>T (TTN) | ENSP00000343764.6:p.Pro24505Ser | |
| ENST00000342175.11:c.54598C>T (TTN) | ENSP00000340554.6:p.Pro18200Ser | |
| ENST00000359218.10:c.54397C>T (TTN) | ENSP00000352154.5:p.Pro18133Ser | |
| ENST00000342175.10:c.54598C>T (TTN) | ENSP00000340554.6:p.Pro18200Ser | |
| ENST00000342992.10:c.73513C>T (TTN) | ENSP00000343764.6:p.Pro24505Ser | |
| ENST00000359218.9:c.54397C>T (TTN) | ENSP00000352154.5:p.Pro18133Ser | |
| ENST00000460472.6:c.54022C>T (TTN) | ENSP00000434586.1:p.Pro18008Ser | |
| ENST00000589042.5:c.81217C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro27073Ser | |
| ENST00000591111.5:c.76294C>T (TTN) | ENSP00000465570.1:p.Pro25432Ser | |
| ENST00000615779.4:c.76294C>T (TTN) | ENSP00000483597.1:p.Pro25432Ser | |
| NM_001256850.1:c.76294C>T (TTN) | NP_001243779.1:p.Pro25432Ser | |
| NM_001267550.2:c.81217C>T (TTN) MANE Select | NP_001254479.2:p.Pro27073Ser | |
| NM_003319.4:c.54022C>T (TTN) | NP_003310.4:p.Pro18008Ser | |
| NM_133378.4:c.73513C>T (TTN) | NP_596869.4:p.Pro24505Ser | |
| NM_133432.3:c.54397C>T (TTN) | NP_597676.3:p.Pro18133Ser | |
| NM_133437.4:c.54598C>T (TTN) | NP_597681.4:p.Pro18200Ser | |
| NR_038271.1:n.447-6385G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17657G>A (TTN-AS1) | ||
| XM_011511729.1:c.80314C>T (TTN) | XP_011510031.1:p.Pro26772Ser | |
| XM_011511730.1:c.54208C>T (TTN) | XP_011510032.1:p.Pro18070Ser | |
| XM_011511731.1:c.54067C>T (TTN) | XP_011510033.1:p.Pro18023Ser | |
| XM_017004819.1:c.80110C>T (TTN) | XP_016860308.1:p.Pro26704Ser | |
| XM_017004820.1:c.75508C>T (TTN) | XP_016860309.1:p.Pro25170Ser | |
| XM_017004821.1:c.75505C>T (TTN) | XP_016860310.1:p.Pro25169Ser | |
| XM_017004822.1:c.72547C>T (TTN) | XP_016860311.1:p.Pro24183Ser | |
| XM_017004823.1:c.54163C>T (TTN) | XP_016860312.1:p.Pro18055Ser | |
| XM_024453094.1:c.75658C>T (TTN) | XP_024308862.1:p.Pro25220Ser | |
| XM_024453095.1:c.75655C>T (TTN) | XP_024308863.1:p.Pro25219Ser | |
| XM_024453096.1:c.75088C>T (TTN) | XP_024308864.1:p.Pro25030Ser | |
| XM_024453097.1:c.72430C>T (TTN) | XP_024308865.1:p.Pro24144Ser | |
| XM_024453098.1:c.72349C>T (TTN) | XP_024308866.1:p.Pro24117Ser | |
| XM_024453099.1:c.54112C>T (TTN) | XP_024308867.1:p.Pro18038Ser | |
| XM_024453100.1:c.43966C>T (TTN) | XP_024308868.1:p.Pro14656Ser |