Linked Data
ClinVar Variation Id:
47030
ClinVar RCV Id:
RCV000040300
RCV000184581
RCV000275689
RCV000248683
RCV000317820
RCV000330719
RCV000372520
RCV000357355
RCV000764335
RCV000560033
RCV001170837
RCV004534902
dbSNP Id:
rs202094100
ExAC:
2:179478597 C / A
gnomAD v2:
2-179478597-C-A
gnomAD v3:
2-178613870-C-A
gnomAD v4:
2-178613870-C-A
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613870C>A , CM000664.2:g.178613870C>A | GRCh38 |
| NC_000002.11:g.179478597C>A , CM000664.1:g.179478597C>A | GRCh37 |
| NC_000002.10:g.179186842C>A | NCBI36 |
| NG_011618.3:g.221933G>T , LRG_391:g.221933G>T | |
| NG_051363.1:g.96044C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41709G>T (TTN) | ENSP00000343764.6:p.Trp13903Cys | |
| ENST00000342175.11:c.22794G>T (TTN) | ENSP00000340554.6:p.Trp7598Cys | |
| ENST00000359218.10:c.22593G>T (TTN) | ENSP00000352154.5:p.Trp7531Cys | |
| ENST00000342175.10:c.22794G>T (TTN) | ENSP00000340554.6:p.Trp7598Cys | |
| ENST00000342992.10:c.41709G>T (TTN) | ENSP00000343764.6:p.Trp13903Cys | |
| ENST00000359218.9:c.22593G>T (TTN) | ENSP00000352154.5:p.Trp7531Cys | |
| ENST00000460472.6:c.22218G>T (TTN) | ENSP00000434586.1:p.Trp7406Cys | |
| ENST00000589042.5:c.49413G>T (TTN) MANE Select | ENSP00000467141.1:p.Trp16471Cys | |
| ENST00000591111.5:c.44490G>T (TTN) | ENSP00000465570.1:p.Trp14830Cys | |
| ENST00000615779.4:c.44490G>T (TTN) | ENSP00000483597.1:p.Trp14830Cys | |
| NM_001256850.1:c.44490G>T (TTN) | NP_001243779.1:p.Trp14830Cys | |
| NM_001267550.2:c.49413G>T (TTN) MANE Select | NP_001254479.2:p.Trp16471Cys | |
| NM_003319.4:c.22218G>T (TTN) | NP_003310.4:p.Trp7406Cys | |
| NM_133378.4:c.41709G>T (TTN) | NP_596869.4:p.Trp13903Cys | |
| NM_133432.3:c.22593G>T (TTN) | NP_597676.3:p.Trp7531Cys | |
| NM_133437.4:c.22794G>T (TTN) | NP_597681.4:p.Trp7598Cys | |
| NR_038271.1:n.783-165C>A (TTN-AS1) | ||
| XM_011511729.1:c.48510G>T (TTN) | XP_011510031.1:p.Trp16170Cys | |
| XM_011511730.1:c.22404G>T (TTN) | XP_011510032.1:p.Trp7468Cys | |
| XM_011511731.1:c.22263G>T (TTN) | XP_011510033.1:p.Trp7421Cys | |
| XM_017004819.1:c.48306G>T (TTN) | XP_016860308.1:p.Trp16102Cys | |
| XM_017004820.1:c.43704G>T (TTN) | XP_016860309.1:p.Trp14568Cys | |
| XM_017004821.1:c.43701G>T (TTN) | XP_016860310.1:p.Trp14567Cys | |
| XM_017004822.1:c.40743G>T (TTN) | XP_016860311.1:p.Trp13581Cys | |
| XM_017004823.1:c.22359G>T (TTN) | XP_016860312.1:p.Trp7453Cys | |
| XM_024453094.1:c.43854G>T (TTN) | XP_024308862.1:p.Trp14618Cys | |
| XM_024453095.1:c.43851G>T (TTN) | XP_024308863.1:p.Trp14617Cys | |
| XM_024453096.1:c.43284G>T (TTN) | XP_024308864.1:p.Trp14428Cys | |
| XM_024453097.1:c.40626G>T (TTN) | XP_024308865.1:p.Trp13542Cys | |
| XM_024453098.1:c.40545G>T (TTN) | XP_024308866.1:p.Trp13515Cys | |
| XM_024453099.1:c.22308G>T (TTN) | XP_024308867.1:p.Trp7436Cys | |
| XM_024453100.1:c.12162G>T (TTN) | XP_024308868.1:p.Trp4054Cys |