Linked Data
ClinVar Variation Id:
96314
ClinVar RCV Id:
RCV000082442
RCV000154897
RCV000283095
RCV000298847
RCV000404036
RCV000353742
RCV000246600
RCV000343194
RCV000393180
RCV001080123
RCV001170311
RCV001293236
RCV001270084
RCV004529867
dbSNP Id:
rs72648237
ExAC:
2:179418346 C / T
gnomAD v2:
2-179418346-C-T
gnomAD v3:
2-178553619-C-T
gnomAD v4:
2-178553619-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553619C>T , CM000664.2:g.178553619C>T | GRCh38 |
| NC_000002.11:g.179418346C>T , CM000664.1:g.179418346C>T | GRCh37 |
| NC_000002.10:g.179126592C>T | NCBI36 |
| NG_011618.3:g.282184G>A , LRG_391:g.282184G>A | |
| NG_051363.1:g.35793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81682G>A (TTN) | ENSP00000343764.6:p.Val27228Met | |
| ENST00000342175.11:c.62767G>A (TTN) | ENSP00000340554.6:p.Val20923Met | |
| ENST00000359218.10:c.62566G>A (TTN) | ENSP00000352154.5:p.Val20856Met | |
| ENST00000342175.10:c.62767G>A (TTN) | ENSP00000340554.6:p.Val20923Met | |
| ENST00000342992.10:c.81682G>A (TTN) | ENSP00000343764.6:p.Val27228Met | |
| ENST00000359218.9:c.62566G>A (TTN) | ENSP00000352154.5:p.Val20856Met | |
| ENST00000460472.6:c.62191G>A (TTN) | ENSP00000434586.1:p.Val20731Met | |
| ENST00000589042.5:c.89386G>A (TTN) MANE Select | ENSP00000467141.1:p.Val29796Met | |
| ENST00000591111.5:c.84463G>A (TTN) | ENSP00000465570.1:p.Val28155Met | |
| ENST00000615779.4:c.84463G>A (TTN) | ENSP00000483597.1:p.Val28155Met | |
| NM_001256850.1:c.84463G>A (TTN) | NP_001243779.1:p.Val28155Met | |
| NM_001267550.2:c.89386G>A (TTN) MANE Select | NP_001254479.2:p.Val29796Met | |
| NM_003319.4:c.62191G>A (TTN) | NP_003310.4:p.Val20731Met | |
| NM_133378.4:c.81682G>A (TTN) | NP_596869.4:p.Val27228Met | |
| NM_133432.3:c.62566G>A (TTN) | NP_597676.3:p.Val20856Met | |
| NM_133437.4:c.62767G>A (TTN) | NP_597681.4:p.Val20923Met | |
| NR_038271.1:n.447-17681C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+11258C>T (TTN-AS1) | ||
| XM_011511729.1:c.88483G>A (TTN) | XP_011510031.1:p.Val29495Met | |
| XM_011511730.1:c.62377G>A (TTN) | XP_011510032.1:p.Val20793Met | |
| XM_011511731.1:c.62236G>A (TTN) | XP_011510033.1:p.Val20746Met | |
| XM_017004819.1:c.88279G>A (TTN) | XP_016860308.1:p.Val29427Met | |
| XM_017004820.1:c.83677G>A (TTN) | XP_016860309.1:p.Val27893Met | |
| XM_017004821.1:c.83674G>A (TTN) | XP_016860310.1:p.Val27892Met | |
| XM_017004822.1:c.80716G>A (TTN) | XP_016860311.1:p.Val26906Met | |
| XM_017004823.1:c.62332G>A (TTN) | XP_016860312.1:p.Val20778Met | |
| XM_024453094.1:c.83827G>A (TTN) | XP_024308862.1:p.Val27943Met | |
| XM_024453095.1:c.83824G>A (TTN) | XP_024308863.1:p.Val27942Met | |
| XM_024453096.1:c.83257G>A (TTN) | XP_024308864.1:p.Val27753Met | |
| XM_024453097.1:c.80599G>A (TTN) | XP_024308865.1:p.Val26867Met | |
| XM_024453098.1:c.80518G>A (TTN) | XP_024308866.1:p.Val26840Met | |
| XM_024453099.1:c.62281G>A (TTN) | XP_024308867.1:p.Val20761Met | |
| XM_024453100.1:c.52135G>A (TTN) | XP_024308868.1:p.Val17379Met |