Linked Data
ClinVar Variation Id:
191938
dbSNP Id:
rs370629962
ExAC:
2:179463751 C / T
gnomAD v2:
2-179463751-C-T
gnomAD v3:
2-178599024-C-T
gnomAD v4:
2-178599024-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599024C>T , CM000664.2:g.178599024C>T | GRCh38 |
| NC_000002.11:g.179463751C>T , CM000664.1:g.179463751C>T | GRCh37 |
| NC_000002.10:g.179171996C>T | NCBI36 |
| NG_011618.3:g.236779G>A , LRG_391:g.236779G>A | |
| NG_051363.1:g.81198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48982G>A (TTN) | ENSP00000343764.6:p.Val16328Met | |
| ENST00000342175.11:c.30067G>A (TTN) | ENSP00000340554.6:p.Val10023Met | |
| ENST00000359218.10:c.29866G>A (TTN) | ENSP00000352154.5:p.Val9956Met | |
| ENST00000342175.10:c.30067G>A (TTN) | ENSP00000340554.6:p.Val10023Met | |
| ENST00000342992.10:c.48982G>A (TTN) | ENSP00000343764.6:p.Val16328Met | |
| ENST00000359218.9:c.29866G>A (TTN) | ENSP00000352154.5:p.Val9956Met | |
| ENST00000460472.6:c.29491G>A (TTN) | ENSP00000434586.1:p.Val9831Met | |
| ENST00000589042.5:c.56686G>A (TTN) MANE Select | ENSP00000467141.1:p.Val18896Met | |
| ENST00000591111.5:c.51763G>A (TTN) | ENSP00000465570.1:p.Val17255Met | |
| ENST00000615779.4:c.51763G>A (TTN) | ENSP00000483597.1:p.Val17255Met | |
| NM_001256850.1:c.51763G>A (TTN) | NP_001243779.1:p.Val17255Met | |
| NM_001267550.2:c.56686G>A (TTN) MANE Select | NP_001254479.2:p.Val18896Met | |
| NM_003319.4:c.29491G>A (TTN) | NP_003310.4:p.Val9831Met | |
| NM_133378.4:c.48982G>A (TTN) | NP_596869.4:p.Val16328Met | |
| NM_133432.3:c.29866G>A (TTN) | NP_597676.3:p.Val9956Met | |
| NM_133437.4:c.30067G>A (TTN) | NP_597681.4:p.Val10023Met | |
| NR_038271.1:n.682+1343C>T (TTN-AS1) | ||
| NR_038272.1:n.3568+351C>T (TTN-AS1) | ||
| XM_011511729.1:c.55783G>A (TTN) | XP_011510031.1:p.Val18595Met | |
| XM_011511730.1:c.29677G>A (TTN) | XP_011510032.1:p.Val9893Met | |
| XM_011511731.1:c.29536G>A (TTN) | XP_011510033.1:p.Val9846Met | |
| XM_017004819.1:c.55579G>A (TTN) | XP_016860308.1:p.Val18527Met | |
| XM_017004820.1:c.50977G>A (TTN) | XP_016860309.1:p.Val16993Met | |
| XM_017004821.1:c.50974G>A (TTN) | XP_016860310.1:p.Val16992Met | |
| XM_017004822.1:c.48016G>A (TTN) | XP_016860311.1:p.Val16006Met | |
| XM_017004823.1:c.29632G>A (TTN) | XP_016860312.1:p.Val9878Met | |
| XM_024453094.1:c.51127G>A (TTN) | XP_024308862.1:p.Val17043Met | |
| XM_024453095.1:c.51124G>A (TTN) | XP_024308863.1:p.Val17042Met | |
| XM_024453096.1:c.50557G>A (TTN) | XP_024308864.1:p.Val16853Met | |
| XM_024453097.1:c.47899G>A (TTN) | XP_024308865.1:p.Val15967Met | |
| XM_024453098.1:c.47818G>A (TTN) | XP_024308866.1:p.Val15940Met | |
| XM_024453099.1:c.29581G>A (TTN) | XP_024308867.1:p.Val9861Met | |
| XM_024453100.1:c.19435G>A (TTN) | XP_024308868.1:p.Val6479Met |