Linked Data
ClinVar Variation Id:
96327
ClinVar RCV Id:
RCV000293378
RCV000259069
RCV000373025
RCV000294576
RCV000333239
RCV000385289
RCV000470580
RCV000723662
RCV002390246
dbSNP Id:
rs188917199
ExAC:
2:179397925 C / T
gnomAD v2:
2-179397925-C-T
gnomAD v3:
2-178533198-C-T
gnomAD v4:
2-178533198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533198C>T , CM000664.2:g.178533198C>T | GRCh38 |
| NC_000002.11:g.179397925C>T , CM000664.1:g.179397925C>T | GRCh37 |
| NC_000002.10:g.179106171C>T | NCBI36 |
| NG_011618.3:g.302605G>A , LRG_391:g.302605G>A | |
| NG_051363.1:g.15372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95713G>A (TTN) | ENSP00000343764.6:p.Val31905Ile | |
| ENST00000342175.11:c.76798G>A (TTN) | ENSP00000340554.6:p.Val25600Ile | |
| ENST00000359218.10:c.76597G>A (TTN) | ENSP00000352154.5:p.Val25533Ile | |
| ENST00000342175.10:c.76798G>A (TTN) | ENSP00000340554.6:p.Val25600Ile | |
| ENST00000342992.10:c.95713G>A (TTN) | ENSP00000343764.6:p.Val31905Ile | |
| ENST00000359218.9:c.76597G>A (TTN) | ENSP00000352154.5:p.Val25533Ile | |
| ENST00000460472.6:c.76222G>A (TTN) | ENSP00000434586.1:p.Val25408Ile | |
| ENST00000589042.5:c.103417G>A (TTN) MANE Select | ENSP00000467141.1:p.Val34473Ile | |
| ENST00000591111.5:c.98494G>A (TTN) | ENSP00000465570.1:p.Val32832Ile | |
| ENST00000615779.4:c.98494G>A (TTN) | ENSP00000483597.1:p.Val32832Ile | |
| NM_001256850.1:c.98494G>A (TTN) | NP_001243779.1:p.Val32832Ile | |
| NM_001267550.2:c.103417G>A (TTN) MANE Select | NP_001254479.2:p.Val34473Ile | |
| NM_003319.4:c.76222G>A (TTN) | NP_003310.4:p.Val25408Ile | |
| NM_133378.4:c.95713G>A (TTN) | NP_596869.4:p.Val31905Ile | |
| NM_133432.3:c.76597G>A (TTN) | NP_597676.3:p.Val25533Ile | |
| NM_133437.4:c.76798G>A (TTN) | NP_597681.4:p.Val25600Ile | |
| NR_038271.1:n.446+9562C>T (TTN-AS1) | ||
| NR_038272.1:n.220-2534C>T (TTN-AS1) | ||
| XM_011511729.1:c.102514G>A (TTN) | XP_011510031.1:p.Val34172Ile | |
| XM_011511730.1:c.76408G>A (TTN) | XP_011510032.1:p.Val25470Ile | |
| XM_011511731.1:c.76267G>A (TTN) | XP_011510033.1:p.Val25423Ile | |
| XM_017004819.1:c.102310G>A (TTN) | XP_016860308.1:p.Val34104Ile | |
| XM_017004820.1:c.97708G>A (TTN) | XP_016860309.1:p.Val32570Ile | |
| XM_017004821.1:c.97705G>A (TTN) | XP_016860310.1:p.Val32569Ile | |
| XM_017004822.1:c.94747G>A (TTN) | XP_016860311.1:p.Val31583Ile | |
| XM_017004823.1:c.76363G>A (TTN) | XP_016860312.1:p.Val25455Ile | |
| XM_024453094.1:c.97858G>A (TTN) | XP_024308862.1:p.Val32620Ile | |
| XM_024453095.1:c.97855G>A (TTN) | XP_024308863.1:p.Val32619Ile | |
| XM_024453096.1:c.97288G>A (TTN) | XP_024308864.1:p.Val32430Ile | |
| XM_024453097.1:c.94630G>A (TTN) | XP_024308865.1:p.Val31544Ile | |
| XM_024453098.1:c.94549G>A (TTN) | XP_024308866.1:p.Val31517Ile | |
| XM_024453099.1:c.76312G>A (TTN) | XP_024308867.1:p.Val25438Ile | |
| XM_024453100.1:c.66166G>A (TTN) | XP_024308868.1:p.Val22056Ile |