Linked Data
ClinVar Variation Id:
47645
ClinVar RCV Id:
RCV000040914
RCV000713952
RCV000769853
RCV000852777
RCV001084745
RCV001128724
RCV001128725
RCV001128726
RCV001128723
RCV001135717
RCV002390171
dbSNP Id:
rs144963736
ExAC:
2:179399239 C / T
gnomAD v2:
2-179399239-C-T
gnomAD v3:
2-178534512-C-T
gnomAD v4:
2-178534512-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534512C>T , CM000664.2:g.178534512C>T | GRCh38 |
| NC_000002.11:g.179399239C>T , CM000664.1:g.179399239C>T | GRCh37 |
| NC_000002.10:g.179107485C>T | NCBI36 |
| NG_011618.3:g.301291G>A , LRG_391:g.301291G>A | |
| NG_051363.1:g.16686C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94399G>A (TTN) | ENSP00000343764.6:p.Asp31467Asn | |
| ENST00000342175.11:c.75484G>A (TTN) | ENSP00000340554.6:p.Asp25162Asn | |
| ENST00000359218.10:c.75283G>A (TTN) | ENSP00000352154.5:p.Asp25095Asn | |
| ENST00000342175.10:c.75484G>A (TTN) | ENSP00000340554.6:p.Asp25162Asn | |
| ENST00000342992.10:c.94399G>A (TTN) | ENSP00000343764.6:p.Asp31467Asn | |
| ENST00000359218.9:c.75283G>A (TTN) | ENSP00000352154.5:p.Asp25095Asn | |
| ENST00000460472.6:c.74908G>A (TTN) | ENSP00000434586.1:p.Asp24970Asn | |
| ENST00000589042.5:c.102103G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp34035Asn | |
| ENST00000591111.5:c.97180G>A (TTN) | ENSP00000465570.1:p.Asp32394Asn | |
| ENST00000615779.4:c.97180G>A (TTN) | ENSP00000483597.1:p.Asp32394Asn | |
| NM_001256850.1:c.97180G>A (TTN) | NP_001243779.1:p.Asp32394Asn | |
| NM_001267550.2:c.102103G>A (TTN) MANE Select | NP_001254479.2:p.Asp34035Asn | |
| NM_003319.4:c.74908G>A (TTN) | NP_003310.4:p.Asp24970Asn | |
| NM_133378.4:c.94399G>A (TTN) | NP_596869.4:p.Asp31467Asn | |
| NM_133432.3:c.75283G>A (TTN) | NP_597676.3:p.Asp25095Asn | |
| NM_133437.4:c.75484G>A (TTN) | NP_597681.4:p.Asp25162Asn | |
| NR_038271.1:n.446+10876C>T (TTN-AS1) | ||
| NR_038272.1:n.220-1220C>T (TTN-AS1) | ||
| XM_011511729.1:c.101200G>A (TTN) | XP_011510031.1:p.Asp33734Asn | |
| XM_011511730.1:c.75094G>A (TTN) | XP_011510032.1:p.Asp25032Asn | |
| XM_011511731.1:c.74953G>A (TTN) | XP_011510033.1:p.Asp24985Asn | |
| XM_017004819.1:c.100996G>A (TTN) | XP_016860308.1:p.Asp33666Asn | |
| XM_017004820.1:c.96394G>A (TTN) | XP_016860309.1:p.Asp32132Asn | |
| XM_017004821.1:c.96391G>A (TTN) | XP_016860310.1:p.Asp32131Asn | |
| XM_017004822.1:c.93433G>A (TTN) | XP_016860311.1:p.Asp31145Asn | |
| XM_017004823.1:c.75049G>A (TTN) | XP_016860312.1:p.Asp25017Asn | |
| XM_024453094.1:c.96544G>A (TTN) | XP_024308862.1:p.Asp32182Asn | |
| XM_024453095.1:c.96541G>A (TTN) | XP_024308863.1:p.Asp32181Asn | |
| XM_024453096.1:c.95974G>A (TTN) | XP_024308864.1:p.Asp31992Asn | |
| XM_024453097.1:c.93316G>A (TTN) | XP_024308865.1:p.Asp31106Asn | |
| XM_024453098.1:c.93235G>A (TTN) | XP_024308866.1:p.Asp31079Asn | |
| XM_024453099.1:c.74998G>A (TTN) | XP_024308867.1:p.Asp25000Asn | |
| XM_024453100.1:c.64852G>A (TTN) | XP_024308868.1:p.Asp21618Asn |