Linked Data
ClinVar Variation Id:
47008
ClinVar RCV Id:
RCV000040278
RCV000172668
RCV000262089
RCV000251802
RCV000296178
RCV000331321
RCV000332423
RCV000385584
RCV000769009
RCV000767391
RCV001082393
RCV004534901
dbSNP Id:
rs72677232
ExAC:
2:179482937 C / T
gnomAD v2:
2-179482937-C-T
gnomAD v3:
2-178618210-C-T
gnomAD v4:
2-178618210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618210C>T , CM000664.2:g.178618210C>T | GRCh38 |
| NC_000002.11:g.179482937C>T , CM000664.1:g.179482937C>T | GRCh37 |
| NC_000002.10:g.179191182C>T | NCBI36 |
| NG_011618.3:g.217593G>A , LRG_391:g.217593G>A | |
| NG_051363.1:g.100384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39544G>A (TTN) | ENSP00000343764.6:p.Val13182Ile | |
| ENST00000342175.11:c.20629G>A (TTN) | ENSP00000340554.6:p.Val6877Ile | |
| ENST00000359218.10:c.20428G>A (TTN) | ENSP00000352154.5:p.Val6810Ile | |
| ENST00000342175.10:c.20629G>A (TTN) | ENSP00000340554.6:p.Val6877Ile | |
| ENST00000342992.10:c.39544G>A (TTN) | ENSP00000343764.6:p.Val13182Ile | |
| ENST00000359218.9:c.20428G>A (TTN) | ENSP00000352154.5:p.Val6810Ile | |
| ENST00000460472.6:c.20053G>A (TTN) | ENSP00000434586.1:p.Val6685Ile | |
| ENST00000589042.5:c.47248G>A (TTN) MANE Select | ENSP00000467141.1:p.Val15750Ile | |
| ENST00000591111.5:c.42325G>A (TTN) | ENSP00000465570.1:p.Val14109Ile | |
| ENST00000615779.4:c.42325G>A (TTN) | ENSP00000483597.1:p.Val14109Ile | |
| NM_001256850.1:c.42325G>A (TTN) | NP_001243779.1:p.Val14109Ile | |
| NM_001267550.2:c.47248G>A (TTN) MANE Select | NP_001254479.2:p.Val15750Ile | |
| NM_003319.4:c.20053G>A (TTN) | NP_003310.4:p.Val6685Ile | |
| NM_133378.4:c.39544G>A (TTN) | NP_596869.4:p.Val13182Ile | |
| NM_133432.3:c.20428G>A (TTN) | NP_597676.3:p.Val6810Ile | |
| NM_133437.4:c.20629G>A (TTN) | NP_597681.4:p.Val6877Ile | |
| NR_038271.1:n.1605-1543C>T (TTN-AS1) | ||
| XM_011511729.1:c.46345G>A (TTN) | XP_011510031.1:p.Val15449Ile | |
| XM_011511730.1:c.20239G>A (TTN) | XP_011510032.1:p.Val6747Ile | |
| XM_011511731.1:c.20098G>A (TTN) | XP_011510033.1:p.Val6700Ile | |
| XM_017004819.1:c.46141G>A (TTN) | XP_016860308.1:p.Val15381Ile | |
| XM_017004820.1:c.41539G>A (TTN) | XP_016860309.1:p.Val13847Ile | |
| XM_017004821.1:c.41536G>A (TTN) | XP_016860310.1:p.Val13846Ile | |
| XM_017004822.1:c.38578G>A (TTN) | XP_016860311.1:p.Val12860Ile | |
| XM_017004823.1:c.20194G>A (TTN) | XP_016860312.1:p.Val6732Ile | |
| XM_024453094.1:c.41689G>A (TTN) | XP_024308862.1:p.Val13897Ile | |
| XM_024453095.1:c.41686G>A (TTN) | XP_024308863.1:p.Val13896Ile | |
| XM_024453096.1:c.41119G>A (TTN) | XP_024308864.1:p.Val13707Ile | |
| XM_024453097.1:c.38461G>A (TTN) | XP_024308865.1:p.Val12821Ile | |
| XM_024453098.1:c.38380G>A (TTN) | XP_024308866.1:p.Val12794Ile | |
| XM_024453099.1:c.20143G>A (TTN) | XP_024308867.1:p.Val6715Ile | |
| XM_024453100.1:c.9997G>A (TTN) | XP_024308868.1:p.Val3333Ile |