Linked Data
ClinVar Variation Id:
378824
ClinVar RCV Id:
RCV001133739
RCV001133740
RCV001133741
RCV001170373
RCV001133742
RCV001133743
RCV001311244
RCV001509980
RCV002436254
dbSNP Id:
rs117072049
ExAC:
2:179462789 G / A
gnomAD v2:
2-179462789-G-A
gnomAD v3:
2-178598062-G-A
gnomAD v4:
2-178598062-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598062G>A , CM000664.2:g.178598062G>A | GRCh38 |
| NC_000002.11:g.179462789G>A , CM000664.1:g.179462789G>A | GRCh37 |
| NC_000002.10:g.179171034G>A | NCBI36 |
| NG_011618.3:g.237741C>T , LRG_391:g.237741C>T | |
| NG_051363.1:g.80236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49408-4C>T (TTN) | ENSP00000343764.6:n.49408-4C>T | |
| ENST00000342175.11:c.30493-4C>T (TTN) | ENSP00000340554.6:n.30493-4C>T | |
| ENST00000359218.10:c.30292-4C>T (TTN) | ENSP00000352154.5:n.30292-4C>T | |
| ENST00000342175.10:c.30493-4C>T (TTN) | ENSP00000340554.6:n.30493-4C>T | |
| ENST00000342992.10:c.49408-4C>T (TTN) | ENSP00000343764.6:n.49408-4C>T | |
| ENST00000359218.9:c.30292-4C>T (TTN) | ENSP00000352154.5:n.30292-4C>T | |
| ENST00000460472.6:c.29917-4C>T (TTN) | ENSP00000434586.1:n.29917-4C>T | |
| ENST00000589042.5:c.57112-4C>T (TTN) MANE Select | ENSP00000467141.1:n.57112-4C>T | |
| ENST00000591111.5:c.52189-4C>T (TTN) | ENSP00000465570.1:n.52189-4C>T | |
| ENST00000615779.4:c.52189-4C>T (TTN) | ENSP00000483597.1:n.52189-4C>T | |
| NM_001256850.1:c.52189-4C>T (TTN) | NP_001243779.1:n.52189-4C>T | |
| NM_001267550.2:c.57112-4C>T (TTN) MANE Select | NP_001254479.2:n.57112-4C>T | |
| NM_003319.4:c.29917-4C>T (TTN) | NP_003310.4:n.29917-4C>T | |
| NM_133378.4:c.49408-4C>T (TTN) | NP_596869.4:n.49408-4C>T | |
| NM_133432.3:c.30292-4C>T (TTN) | NP_597676.3:n.30292-4C>T | |
| NM_133437.4:c.30493-4C>T (TTN) | NP_597681.4:n.30493-4C>T | |
| NR_038271.1:n.682+381G>A (TTN-AS1) | ||
| NR_038272.1:n.3450+381G>A (TTN-AS1) | ||
| XM_011511729.1:c.56209-4C>T (TTN) | XP_011510031.1:n.56209-4C>T | |
| XM_011511730.1:c.30103-4C>T (TTN) | XP_011510032.1:n.30103-4C>T | |
| XM_011511731.1:c.29962-4C>T (TTN) | XP_011510033.1:n.29962-4C>T | |
| XM_017004819.1:c.56005-4C>T (TTN) | XP_016860308.1:n.56005-4C>T | |
| XM_017004820.1:c.51403-4C>T (TTN) | XP_016860309.1:n.51403-4C>T | |
| XM_017004821.1:c.51400-4C>T (TTN) | XP_016860310.1:n.51400-4C>T | |
| XM_017004822.1:c.48442-4C>T (TTN) | XP_016860311.1:n.48442-4C>T | |
| XM_017004823.1:c.30058-4C>T (TTN) | XP_016860312.1:n.30058-4C>T | |
| XM_024453094.1:c.51553-4C>T (TTN) | XP_024308862.1:n.51553-4C>T | |
| XM_024453095.1:c.51550-4C>T (TTN) | XP_024308863.1:n.51550-4C>T | |
| XM_024453096.1:c.50983-4C>T (TTN) | XP_024308864.1:n.50983-4C>T | |
| XM_024453097.1:c.48325-4C>T (TTN) | XP_024308865.1:n.48325-4C>T | |
| XM_024453098.1:c.48244-4C>T (TTN) | XP_024308866.1:n.48244-4C>T | |
| XM_024453099.1:c.30007-4C>T (TTN) | XP_024308867.1:n.30007-4C>T | |
| XM_024453100.1:c.19861-4C>T (TTN) | XP_024308868.1:n.19861-4C>T |