Linked Data
ClinVar Variation Id:
179154
ClinVar RCV Id:
RCV000155940
RCV000172202
RCV000322052
RCV000264757
RCV000270671
RCV000361658
RCV000362406
RCV000768866
RCV002362825
dbSNP Id:
rs727504672
ExAC:
2:179414833 C / T
gnomAD v2:
2-179414833-C-T
gnomAD v3:
2-178550106-C-T
gnomAD v4:
2-178550106-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178550106C>T , CM000664.2:g.178550106C>T | GRCh38 |
| NC_000002.11:g.179414833C>T , CM000664.1:g.179414833C>T | GRCh37 |
| NC_000002.10:g.179123079C>T | NCBI36 |
| NG_011618.3:g.285697G>A , LRG_391:g.285697G>A | |
| NG_051363.1:g.32280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84028G>A (TTN) | ENSP00000343764.6:p.Val28010Ile | |
| ENST00000342175.11:c.65113G>A (TTN) | ENSP00000340554.6:p.Val21705Ile | |
| ENST00000359218.10:c.64912G>A (TTN) | ENSP00000352154.5:p.Val21638Ile | |
| ENST00000342175.10:c.65113G>A (TTN) | ENSP00000340554.6:p.Val21705Ile | |
| ENST00000342992.10:c.84028G>A (TTN) | ENSP00000343764.6:p.Val28010Ile | |
| ENST00000359218.9:c.64912G>A (TTN) | ENSP00000352154.5:p.Val21638Ile | |
| ENST00000460472.6:c.64537G>A (TTN) | ENSP00000434586.1:p.Val21513Ile | |
| ENST00000589042.5:c.91732G>A (TTN) MANE Select | ENSP00000467141.1:p.Val30578Ile | |
| ENST00000591111.5:c.86809G>A (TTN) | ENSP00000465570.1:p.Val28937Ile | |
| ENST00000615779.4:c.86809G>A (TTN) | ENSP00000483597.1:p.Val28937Ile | |
| NM_001256850.1:c.86809G>A (TTN) | NP_001243779.1:p.Val28937Ile | |
| NM_001267550.2:c.91732G>A (TTN) MANE Select | NP_001254479.2:p.Val30578Ile | |
| NM_003319.4:c.64537G>A (TTN) | NP_003310.4:p.Val21513Ile | |
| NM_133378.4:c.84028G>A (TTN) | NP_596869.4:p.Val28010Ile | |
| NM_133432.3:c.64912G>A (TTN) | NP_597676.3:p.Val21638Ile | |
| NM_133437.4:c.65113G>A (TTN) | NP_597681.4:p.Val21705Ile | |
| NR_038271.1:n.447-21194C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+7745C>T (TTN-AS1) | ||
| XM_011511729.1:c.90829G>A (TTN) | XP_011510031.1:p.Val30277Ile | |
| XM_011511730.1:c.64723G>A (TTN) | XP_011510032.1:p.Val21575Ile | |
| XM_011511731.1:c.64582G>A (TTN) | XP_011510033.1:p.Val21528Ile | |
| XM_017004819.1:c.90625G>A (TTN) | XP_016860308.1:p.Val30209Ile | |
| XM_017004820.1:c.86023G>A (TTN) | XP_016860309.1:p.Val28675Ile | |
| XM_017004821.1:c.86020G>A (TTN) | XP_016860310.1:p.Val28674Ile | |
| XM_017004822.1:c.83062G>A (TTN) | XP_016860311.1:p.Val27688Ile | |
| XM_017004823.1:c.64678G>A (TTN) | XP_016860312.1:p.Val21560Ile | |
| XM_024453094.1:c.86173G>A (TTN) | XP_024308862.1:p.Val28725Ile | |
| XM_024453095.1:c.86170G>A (TTN) | XP_024308863.1:p.Val28724Ile | |
| XM_024453096.1:c.85603G>A (TTN) | XP_024308864.1:p.Val28535Ile | |
| XM_024453097.1:c.82945G>A (TTN) | XP_024308865.1:p.Val27649Ile | |
| XM_024453098.1:c.82864G>A (TTN) | XP_024308866.1:p.Val27622Ile | |
| XM_024453099.1:c.64627G>A (TTN) | XP_024308867.1:p.Val21543Ile | |
| XM_024453100.1:c.54481G>A (TTN) | XP_024308868.1:p.Val18161Ile |