Linked Data
ClinVar Variation Id:
165924
ClinVar RCV Id:
RCV000152268
RCV000461956
RCV000618661
RCV001085555
RCV001132664
RCV001171295
RCV001132661
RCV001132662
RCV001132663
RCV001136052
RCV004532694
dbSNP Id:
rs201167216
ExAC:
2:179455314 G / T
gnomAD v2:
2-179455314-G-T
gnomAD v3:
2-178590587-G-T
gnomAD v4:
2-178590587-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590587G>T , CM000664.2:g.178590587G>T | GRCh38 |
| NC_000002.11:g.179455314G>T , CM000664.1:g.179455314G>T | GRCh37 |
| NC_000002.10:g.179163560G>T | NCBI36 |
| NG_011618.3:g.245216C>A , LRG_391:g.245216C>A | |
| NG_051363.1:g.72761G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53434C>A (TTN) | ENSP00000343764.6:p.Leu17812Met | |
| ENST00000342175.11:c.34519C>A (TTN) | ENSP00000340554.6:p.Leu11507Met | |
| ENST00000359218.10:c.34318C>A (TTN) | ENSP00000352154.5:p.Leu11440Met | |
| ENST00000342175.10:c.34519C>A (TTN) | ENSP00000340554.6:p.Leu11507Met | |
| ENST00000342992.10:c.53434C>A (TTN) | ENSP00000343764.6:p.Leu17812Met | |
| ENST00000359218.9:c.34318C>A (TTN) | ENSP00000352154.5:p.Leu11440Met | |
| ENST00000460472.6:c.33943C>A (TTN) | ENSP00000434586.1:p.Leu11315Met | |
| ENST00000589042.5:c.61138C>A (TTN) MANE Select | ENSP00000467141.1:p.Leu20380Met | |
| ENST00000591111.5:c.56215C>A (TTN) | ENSP00000465570.1:p.Leu18739Met | |
| ENST00000615779.4:c.56215C>A (TTN) | ENSP00000483597.1:p.Leu18739Met | |
| NM_001256850.1:c.56215C>A (TTN) | NP_001243779.1:p.Leu18739Met | |
| NM_001267550.2:c.61138C>A (TTN) MANE Select | NP_001254479.2:p.Leu20380Met | |
| NM_003319.4:c.33943C>A (TTN) | NP_003310.4:p.Leu11315Met | |
| NM_133378.4:c.53434C>A (TTN) | NP_596869.4:p.Leu17812Met | |
| NM_133432.3:c.34318C>A (TTN) | NP_597676.3:p.Leu11440Met | |
| NM_133437.4:c.34519C>A (TTN) | NP_597681.4:p.Leu11507Met | |
| NR_038271.1:n.597-7009G>T (TTN-AS1) | ||
| NR_038272.1:n.3189-552G>T (TTN-AS1) | ||
| XM_011511729.1:c.60235C>A (TTN) | XP_011510031.1:p.Leu20079Met | |
| XM_011511730.1:c.34129C>A (TTN) | XP_011510032.1:p.Leu11377Met | |
| XM_011511731.1:c.33988C>A (TTN) | XP_011510033.1:p.Leu11330Met | |
| XM_017004819.1:c.60031C>A (TTN) | XP_016860308.1:p.Leu20011Met | |
| XM_017004820.1:c.55429C>A (TTN) | XP_016860309.1:p.Leu18477Met | |
| XM_017004821.1:c.55426C>A (TTN) | XP_016860310.1:p.Leu18476Met | |
| XM_017004822.1:c.52468C>A (TTN) | XP_016860311.1:p.Leu17490Met | |
| XM_017004823.1:c.34084C>A (TTN) | XP_016860312.1:p.Leu11362Met | |
| XM_024453094.1:c.55579C>A (TTN) | XP_024308862.1:p.Leu18527Met | |
| XM_024453095.1:c.55576C>A (TTN) | XP_024308863.1:p.Leu18526Met | |
| XM_024453096.1:c.55009C>A (TTN) | XP_024308864.1:p.Leu18337Met | |
| XM_024453097.1:c.52351C>A (TTN) | XP_024308865.1:p.Leu17451Met | |
| XM_024453098.1:c.52270C>A (TTN) | XP_024308866.1:p.Leu17424Met | |
| XM_024453099.1:c.34033C>A (TTN) | XP_024308867.1:p.Leu11345Met | |
| XM_024453100.1:c.23887C>A (TTN) | XP_024308868.1:p.Leu7963Met |