Linked Data
ClinVar Variation Id:
512804
dbSNP Id:
rs72648267
ExAC:
2:179407189 G / A
gnomAD v2:
2-179407189-G-A
gnomAD v3:
2-178542462-G-A
gnomAD v4:
2-178542462-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542462G>A , CM000664.2:g.178542462G>A | GRCh38 |
| NC_000002.11:g.179407189G>A , CM000664.1:g.179407189G>A | GRCh37 |
| NC_000002.10:g.179115435G>A | NCBI36 |
| NG_011618.3:g.293341C>T , LRG_391:g.293341C>T | |
| NG_051363.1:g.24636G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89590C>T (TTN) | ENSP00000343764.6:p.Leu29864= | |
| ENST00000342175.11:c.70675C>T (TTN) | ENSP00000340554.6:p.Leu23559= | |
| ENST00000359218.10:c.70474C>T (TTN) | ENSP00000352154.5:p.Leu23492= | |
| ENST00000342175.10:c.70675C>T (TTN) | ENSP00000340554.6:p.Leu23559= | |
| ENST00000342992.10:c.89590C>T (TTN) | ENSP00000343764.6:p.Leu29864= | |
| ENST00000359218.9:c.70474C>T (TTN) | ENSP00000352154.5:p.Leu23492= | |
| ENST00000460472.6:c.70099C>T (TTN) | ENSP00000434586.1:p.Leu23367= | |
| ENST00000589042.5:c.97294C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu32432= | |
| ENST00000591111.5:c.92371C>T (TTN) | ENSP00000465570.1:p.Leu30791= | |
| ENST00000615779.4:c.92371C>T (TTN) | ENSP00000483597.1:p.Leu30791= | |
| NM_001256850.1:c.92371C>T (TTN) | NP_001243779.1:p.Leu30791= | |
| NM_001267550.2:c.97294C>T (TTN) MANE Select | NP_001254479.2:p.Leu32432= | |
| NM_003319.4:c.70099C>T (TTN) | NP_003310.4:p.Leu23367= | |
| NM_133378.4:c.89590C>T (TTN) | NP_596869.4:p.Leu29864= | |
| NM_133432.3:c.70474C>T (TTN) | NP_597676.3:p.Leu23492= | |
| NM_133437.4:c.70675C>T (TTN) | NP_597681.4:p.Leu23559= | |
| NR_038271.1:n.446+18826G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+101G>A (TTN-AS1) | ||
| XM_011511729.1:c.96391C>T (TTN) | XP_011510031.1:p.Leu32131= | |
| XM_011511730.1:c.70285C>T (TTN) | XP_011510032.1:p.Leu23429= | |
| XM_011511731.1:c.70144C>T (TTN) | XP_011510033.1:p.Leu23382= | |
| XM_017004819.1:c.96187C>T (TTN) | XP_016860308.1:p.Leu32063= | |
| XM_017004820.1:c.91585C>T (TTN) | XP_016860309.1:p.Leu30529= | |
| XM_017004821.1:c.91582C>T (TTN) | XP_016860310.1:p.Leu30528= | |
| XM_017004822.1:c.88624C>T (TTN) | XP_016860311.1:p.Leu29542= | |
| XM_017004823.1:c.70240C>T (TTN) | XP_016860312.1:p.Leu23414= | |
| XM_024453094.1:c.91735C>T (TTN) | XP_024308862.1:p.Leu30579= | |
| XM_024453095.1:c.91732C>T (TTN) | XP_024308863.1:p.Leu30578= | |
| XM_024453096.1:c.91165C>T (TTN) | XP_024308864.1:p.Leu30389= | |
| XM_024453097.1:c.88507C>T (TTN) | XP_024308865.1:p.Leu29503= | |
| XM_024453098.1:c.88426C>T (TTN) | XP_024308866.1:p.Leu29476= | |
| XM_024453099.1:c.70189C>T (TTN) | XP_024308867.1:p.Leu23397= | |
| XM_024453100.1:c.60043C>T (TTN) | XP_024308868.1:p.Leu20015= |