Linked Data
ClinVar Variation Id:
179517
dbSNP Id:
rs727504918
ExAC:
2:179396428 C / T
gnomAD v2:
2-179396428-C-T
gnomAD v3:
2-178531701-C-T
gnomAD v4:
2-178531701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531701C>T , CM000664.2:g.178531701C>T | GRCh38 |
| NC_000002.11:g.179396428C>T , CM000664.1:g.179396428C>T | GRCh37 |
| NC_000002.10:g.179104674C>T | NCBI36 |
| NG_011618.3:g.304102G>A , LRG_391:g.304102G>A | |
| NG_051363.1:g.13875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97210G>A (TTN) | ENSP00000343764.6:p.Glu32404Lys | |
| ENST00000342175.11:c.78295G>A (TTN) | ENSP00000340554.6:p.Glu26099Lys | |
| ENST00000359218.10:c.78094G>A (TTN) | ENSP00000352154.5:p.Glu26032Lys | |
| ENST00000342175.10:c.78295G>A (TTN) | ENSP00000340554.6:p.Glu26099Lys | |
| ENST00000342992.10:c.97210G>A (TTN) | ENSP00000343764.6:p.Glu32404Lys | |
| ENST00000359218.9:c.78094G>A (TTN) | ENSP00000352154.5:p.Glu26032Lys | |
| ENST00000460472.6:c.77719G>A (TTN) | ENSP00000434586.1:p.Glu25907Lys | |
| ENST00000589042.5:c.104914G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu34972Lys | |
| ENST00000591111.5:c.99991G>A (TTN) | ENSP00000465570.1:p.Glu33331Lys | |
| ENST00000615779.4:c.99991G>A (TTN) | ENSP00000483597.1:p.Glu33331Lys | |
| NM_001256850.1:c.99991G>A (TTN) | NP_001243779.1:p.Glu33331Lys | |
| NM_001267550.2:c.104914G>A (TTN) MANE Select | NP_001254479.2:p.Glu34972Lys | |
| NM_003319.4:c.77719G>A (TTN) | NP_003310.4:p.Glu25907Lys | |
| NM_133378.4:c.97210G>A (TTN) | NP_596869.4:p.Glu32404Lys | |
| NM_133432.3:c.78094G>A (TTN) | NP_597676.3:p.Glu26032Lys | |
| NM_133437.4:c.78295G>A (TTN) | NP_597681.4:p.Glu26099Lys | |
| NR_038271.1:n.446+8065C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4031C>T (TTN-AS1) | ||
| XM_011511729.1:c.104011G>A (TTN) | XP_011510031.1:p.Glu34671Lys | |
| XM_011511730.1:c.77905G>A (TTN) | XP_011510032.1:p.Glu25969Lys | |
| XM_011511731.1:c.77764G>A (TTN) | XP_011510033.1:p.Glu25922Lys | |
| XM_017004819.1:c.103807G>A (TTN) | XP_016860308.1:p.Glu34603Lys | |
| XM_017004820.1:c.99205G>A (TTN) | XP_016860309.1:p.Glu33069Lys | |
| XM_017004821.1:c.99202G>A (TTN) | XP_016860310.1:p.Glu33068Lys | |
| XM_017004822.1:c.96244G>A (TTN) | XP_016860311.1:p.Glu32082Lys | |
| XM_017004823.1:c.77860G>A (TTN) | XP_016860312.1:p.Glu25954Lys | |
| XM_024453094.1:c.99355G>A (TTN) | XP_024308862.1:p.Glu33119Lys | |
| XM_024453095.1:c.99352G>A (TTN) | XP_024308863.1:p.Glu33118Lys | |
| XM_024453096.1:c.98785G>A (TTN) | XP_024308864.1:p.Glu32929Lys | |
| XM_024453097.1:c.96127G>A (TTN) | XP_024308865.1:p.Glu32043Lys | |
| XM_024453098.1:c.96046G>A (TTN) | XP_024308866.1:p.Glu32016Lys | |
| XM_024453099.1:c.77809G>A (TTN) | XP_024308867.1:p.Glu25937Lys | |
| XM_024453100.1:c.67663G>A (TTN) | XP_024308868.1:p.Glu22555Lys |