Linked Data
ClinVar Variation Id:
500219
dbSNP Id:
rs762735652
ExAC:
2:179463582 C / A
gnomAD v2:
2-179463582-C-A
gnomAD v4:
2-178598855-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598855C>A , CM000664.2:g.178598855C>A | GRCh38 |
| NC_000002.11:g.179463582C>A , CM000664.1:g.179463582C>A | GRCh37 |
| NC_000002.10:g.179171827C>A | NCBI36 |
| NG_011618.3:g.236948G>T , LRG_391:g.236948G>T | |
| NG_051363.1:g.81029C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49151G>T (TTN) | ENSP00000343764.6:p.Gly16384Val | |
| ENST00000342175.11:c.30236G>T (TTN) | ENSP00000340554.6:p.Gly10079Val | |
| ENST00000359218.10:c.30035G>T (TTN) | ENSP00000352154.5:p.Gly10012Val | |
| ENST00000342175.10:c.30236G>T (TTN) | ENSP00000340554.6:p.Gly10079Val | |
| ENST00000342992.10:c.49151G>T (TTN) | ENSP00000343764.6:p.Gly16384Val | |
| ENST00000359218.9:c.30035G>T (TTN) | ENSP00000352154.5:p.Gly10012Val | |
| ENST00000460472.6:c.29660G>T (TTN) | ENSP00000434586.1:p.Gly9887Val | |
| ENST00000589042.5:c.56855G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly18952Val | |
| ENST00000591111.5:c.51932G>T (TTN) | ENSP00000465570.1:p.Gly17311Val | |
| ENST00000615779.4:c.51932G>T (TTN) | ENSP00000483597.1:p.Gly17311Val | |
| NM_001256850.1:c.51932G>T (TTN) | NP_001243779.1:p.Gly17311Val | |
| NM_001267550.2:c.56855G>T (TTN) MANE Select | NP_001254479.2:p.Gly18952Val | |
| NM_003319.4:c.29660G>T (TTN) | NP_003310.4:p.Gly9887Val | |
| NM_133378.4:c.49151G>T (TTN) | NP_596869.4:p.Gly16384Val | |
| NM_133432.3:c.30035G>T (TTN) | NP_597676.3:p.Gly10012Val | |
| NM_133437.4:c.30236G>T (TTN) | NP_597681.4:p.Gly10079Val | |
| NR_038271.1:n.682+1174C>A (TTN-AS1) | ||
| NR_038272.1:n.3568+182C>A (TTN-AS1) | ||
| XM_011511729.1:c.55952G>T (TTN) | XP_011510031.1:p.Gly18651Val | |
| XM_011511730.1:c.29846G>T (TTN) | XP_011510032.1:p.Gly9949Val | |
| XM_011511731.1:c.29705G>T (TTN) | XP_011510033.1:p.Gly9902Val | |
| XM_017004819.1:c.55748G>T (TTN) | XP_016860308.1:p.Gly18583Val | |
| XM_017004820.1:c.51146G>T (TTN) | XP_016860309.1:p.Gly17049Val | |
| XM_017004821.1:c.51143G>T (TTN) | XP_016860310.1:p.Gly17048Val | |
| XM_017004822.1:c.48185G>T (TTN) | XP_016860311.1:p.Gly16062Val | |
| XM_017004823.1:c.29801G>T (TTN) | XP_016860312.1:p.Gly9934Val | |
| XM_024453094.1:c.51296G>T (TTN) | XP_024308862.1:p.Gly17099Val | |
| XM_024453095.1:c.51293G>T (TTN) | XP_024308863.1:p.Gly17098Val | |
| XM_024453096.1:c.50726G>T (TTN) | XP_024308864.1:p.Gly16909Val | |
| XM_024453097.1:c.48068G>T (TTN) | XP_024308865.1:p.Gly16023Val | |
| XM_024453098.1:c.47987G>T (TTN) | XP_024308866.1:p.Gly15996Val | |
| XM_024453099.1:c.29750G>T (TTN) | XP_024308867.1:p.Gly9917Val | |
| XM_024453100.1:c.19604G>T (TTN) | XP_024308868.1:p.Gly6535Val |