Linked Data
ClinVar Variation Id:
518969
dbSNP Id:
rs541266544
ExAC:
2:179433557 G / T
gnomAD v2:
2-179433557-G-T
gnomAD v3:
2-178568830-G-T
gnomAD v4:
2-178568830-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568830G>T , CM000664.2:g.178568830G>T | GRCh38 |
| NC_000002.11:g.179433557G>T , CM000664.1:g.179433557G>T | GRCh37 |
| NC_000002.10:g.179141803G>T | NCBI36 |
| NG_011618.3:g.266973C>A , LRG_391:g.266973C>A | |
| NG_051363.1:g.51004G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69598C>A (TTN) | ENSP00000343764.6:p.Leu23200Ile | |
| ENST00000342175.11:c.50683C>A (TTN) | ENSP00000340554.6:p.Leu16895Ile | |
| ENST00000359218.10:c.50482C>A (TTN) | ENSP00000352154.5:p.Leu16828Ile | |
| ENST00000342175.10:c.50683C>A (TTN) | ENSP00000340554.6:p.Leu16895Ile | |
| ENST00000342992.10:c.69598C>A (TTN) | ENSP00000343764.6:p.Leu23200Ile | |
| ENST00000359218.9:c.50482C>A (TTN) | ENSP00000352154.5:p.Leu16828Ile | |
| ENST00000460472.6:c.50107C>A (TTN) | ENSP00000434586.1:p.Leu16703Ile | |
| ENST00000589042.5:c.77302C>A (TTN) MANE Select | ENSP00000467141.1:p.Leu25768Ile | |
| ENST00000591111.5:c.72379C>A (TTN) | ENSP00000465570.1:p.Leu24127Ile | |
| ENST00000615779.4:c.72379C>A (TTN) | ENSP00000483597.1:p.Leu24127Ile | |
| NM_001256850.1:c.72379C>A (TTN) | NP_001243779.1:p.Leu24127Ile | |
| NM_001267550.2:c.77302C>A (TTN) MANE Select | NP_001254479.2:p.Leu25768Ile | |
| NM_003319.4:c.50107C>A (TTN) | NP_003310.4:p.Leu16703Ile | |
| NM_133378.4:c.69598C>A (TTN) | NP_596869.4:p.Leu23200Ile | |
| NM_133432.3:c.50482C>A (TTN) | NP_597676.3:p.Leu16828Ile | |
| NM_133437.4:c.50683C>A (TTN) | NP_597681.4:p.Leu16895Ile | |
| NR_038271.1:n.447-2470G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13742G>T (TTN-AS1) | ||
| XM_011511729.1:c.76399C>A (TTN) | XP_011510031.1:p.Leu25467Ile | |
| XM_011511730.1:c.50293C>A (TTN) | XP_011510032.1:p.Leu16765Ile | |
| XM_011511731.1:c.50152C>A (TTN) | XP_011510033.1:p.Leu16718Ile | |
| XM_017004819.1:c.76195C>A (TTN) | XP_016860308.1:p.Leu25399Ile | |
| XM_017004820.1:c.71593C>A (TTN) | XP_016860309.1:p.Leu23865Ile | |
| XM_017004821.1:c.71590C>A (TTN) | XP_016860310.1:p.Leu23864Ile | |
| XM_017004822.1:c.68632C>A (TTN) | XP_016860311.1:p.Leu22878Ile | |
| XM_017004823.1:c.50248C>A (TTN) | XP_016860312.1:p.Leu16750Ile | |
| XM_024453094.1:c.71743C>A (TTN) | XP_024308862.1:p.Leu23915Ile | |
| XM_024453095.1:c.71740C>A (TTN) | XP_024308863.1:p.Leu23914Ile | |
| XM_024453096.1:c.71173C>A (TTN) | XP_024308864.1:p.Leu23725Ile | |
| XM_024453097.1:c.68515C>A (TTN) | XP_024308865.1:p.Leu22839Ile | |
| XM_024453098.1:c.68434C>A (TTN) | XP_024308866.1:p.Leu22812Ile | |
| XM_024453099.1:c.50197C>A (TTN) | XP_024308867.1:p.Leu16733Ile | |
| XM_024453100.1:c.40051C>A (TTN) | XP_024308868.1:p.Leu13351Ile |