Linked Data
ClinVar Variation Id:
47206
dbSNP Id:
rs397517657
ExAC:
2:179451527 C / T
gnomAD v2:
2-179451527-C-T
gnomAD v4:
2-178586800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586800C>T , CM000664.2:g.178586800C>T | GRCh38 |
| NC_000002.11:g.179451527C>T , CM000664.1:g.179451527C>T | GRCh37 |
| NC_000002.10:g.179159773C>T | NCBI36 |
| NG_011618.3:g.249003G>A , LRG_391:g.249003G>A | |
| NG_051363.1:g.68974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56397G>A (TTN) | ENSP00000343764.6:p.Pro18799= | |
| ENST00000342175.11:c.37482G>A (TTN) | ENSP00000340554.6:p.Pro12494= | |
| ENST00000359218.10:c.37281G>A (TTN) | ENSP00000352154.5:p.Pro12427= | |
| ENST00000342175.10:c.37482G>A (TTN) | ENSP00000340554.6:p.Pro12494= | |
| ENST00000342992.10:c.56397G>A (TTN) | ENSP00000343764.6:p.Pro18799= | |
| ENST00000359218.9:c.37281G>A (TTN) | ENSP00000352154.5:p.Pro12427= | |
| ENST00000460472.6:c.36906G>A (TTN) | ENSP00000434586.1:p.Pro12302= | |
| ENST00000589042.5:c.64101G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro21367= | |
| ENST00000591111.5:c.59178G>A (TTN) | ENSP00000465570.1:p.Pro19726= | |
| ENST00000615779.4:c.59178G>A (TTN) | ENSP00000483597.1:p.Pro19726= | |
| NM_001256850.1:c.59178G>A (TTN) | NP_001243779.1:p.Pro19726= | |
| NM_001267550.2:c.64101G>A (TTN) MANE Select | NP_001254479.2:p.Pro21367= | |
| NM_003319.4:c.36906G>A (TTN) | NP_003310.4:p.Pro12302= | |
| NM_133378.4:c.56397G>A (TTN) | NP_596869.4:p.Pro18799= | |
| NM_133432.3:c.37281G>A (TTN) | NP_597676.3:p.Pro12427= | |
| NM_133437.4:c.37482G>A (TTN) | NP_597681.4:p.Pro12494= | |
| NR_038271.1:n.597-10796C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+1807C>T (TTN-AS1) | ||
| XM_011511729.1:c.63198G>A (TTN) | XP_011510031.1:p.Pro21066= | |
| XM_011511730.1:c.37092G>A (TTN) | XP_011510032.1:p.Pro12364= | |
| XM_011511731.1:c.36951G>A (TTN) | XP_011510033.1:p.Pro12317= | |
| XM_017004819.1:c.62994G>A (TTN) | XP_016860308.1:p.Pro20998= | |
| XM_017004820.1:c.58392G>A (TTN) | XP_016860309.1:p.Pro19464= | |
| XM_017004821.1:c.58389G>A (TTN) | XP_016860310.1:p.Pro19463= | |
| XM_017004822.1:c.55431G>A (TTN) | XP_016860311.1:p.Pro18477= | |
| XM_017004823.1:c.37047G>A (TTN) | XP_016860312.1:p.Pro12349= | |
| XM_024453094.1:c.58542G>A (TTN) | XP_024308862.1:p.Pro19514= | |
| XM_024453095.1:c.58539G>A (TTN) | XP_024308863.1:p.Pro19513= | |
| XM_024453096.1:c.57972G>A (TTN) | XP_024308864.1:p.Pro19324= | |
| XM_024453097.1:c.55314G>A (TTN) | XP_024308865.1:p.Pro18438= | |
| XM_024453098.1:c.55233G>A (TTN) | XP_024308866.1:p.Pro18411= | |
| XM_024453099.1:c.36996G>A (TTN) | XP_024308867.1:p.Pro12332= | |
| XM_024453100.1:c.26850G>A (TTN) | XP_024308868.1:p.Pro8950= |