Linked Data
ClinVar Variation Id:
180094
ClinVar RCV Id:
RCV000156898
RCV000172243
RCV000364729
RCV000310296
RCV000313729
RCV000349857
RCV000400261
RCV000769929
RCV001086890
RCV002345526
RCV004544461
dbSNP Id:
rs200406978
ExAC:
2:179429915 A / G
gnomAD v2:
2-179429915-A-G
gnomAD v3:
2-178565188-A-G
gnomAD v4:
2-178565188-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565188A>G , CM000664.2:g.178565188A>G | GRCh38 |
| NC_000002.11:g.179429915A>G , CM000664.1:g.179429915A>G | GRCh37 |
| NC_000002.10:g.179138161A>G | NCBI36 |
| NG_011618.3:g.270615T>C , LRG_391:g.270615T>C | |
| NG_051363.1:g.47362A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73240T>C (TTN) | ENSP00000343764.6:p.Phe24414Leu | |
| ENST00000342175.11:c.54325T>C (TTN) | ENSP00000340554.6:p.Phe18109Leu | |
| ENST00000359218.10:c.54124T>C (TTN) | ENSP00000352154.5:p.Phe18042Leu | |
| ENST00000342175.10:c.54325T>C (TTN) | ENSP00000340554.6:p.Phe18109Leu | |
| ENST00000342992.10:c.73240T>C (TTN) | ENSP00000343764.6:p.Phe24414Leu | |
| ENST00000359218.9:c.54124T>C (TTN) | ENSP00000352154.5:p.Phe18042Leu | |
| ENST00000460472.6:c.53749T>C (TTN) | ENSP00000434586.1:p.Phe17917Leu | |
| ENST00000589042.5:c.80944T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe26982Leu | |
| ENST00000591111.5:c.76021T>C (TTN) | ENSP00000465570.1:p.Phe25341Leu | |
| ENST00000615779.4:c.76021T>C (TTN) | ENSP00000483597.1:p.Phe25341Leu | |
| NM_001256850.1:c.76021T>C (TTN) | NP_001243779.1:p.Phe25341Leu | |
| NM_001267550.2:c.80944T>C (TTN) MANE Select | NP_001254479.2:p.Phe26982Leu | |
| NM_003319.4:c.53749T>C (TTN) | NP_003310.4:p.Phe17917Leu | |
| NM_133378.4:c.73240T>C (TTN) | NP_596869.4:p.Phe24414Leu | |
| NM_133432.3:c.54124T>C (TTN) | NP_597676.3:p.Phe18042Leu | |
| NM_133437.4:c.54325T>C (TTN) | NP_597681.4:p.Phe18109Leu | |
| NR_038271.1:n.447-6112A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-17384A>G (TTN-AS1) | ||
| XM_011511729.1:c.80041T>C (TTN) | XP_011510031.1:p.Phe26681Leu | |
| XM_011511730.1:c.53935T>C (TTN) | XP_011510032.1:p.Phe17979Leu | |
| XM_011511731.1:c.53794T>C (TTN) | XP_011510033.1:p.Phe17932Leu | |
| XM_017004819.1:c.79837T>C (TTN) | XP_016860308.1:p.Phe26613Leu | |
| XM_017004820.1:c.75235T>C (TTN) | XP_016860309.1:p.Phe25079Leu | |
| XM_017004821.1:c.75232T>C (TTN) | XP_016860310.1:p.Phe25078Leu | |
| XM_017004822.1:c.72274T>C (TTN) | XP_016860311.1:p.Phe24092Leu | |
| XM_017004823.1:c.53890T>C (TTN) | XP_016860312.1:p.Phe17964Leu | |
| XM_024453094.1:c.75385T>C (TTN) | XP_024308862.1:p.Phe25129Leu | |
| XM_024453095.1:c.75382T>C (TTN) | XP_024308863.1:p.Phe25128Leu | |
| XM_024453096.1:c.74815T>C (TTN) | XP_024308864.1:p.Phe24939Leu | |
| XM_024453097.1:c.72157T>C (TTN) | XP_024308865.1:p.Phe24053Leu | |
| XM_024453098.1:c.72076T>C (TTN) | XP_024308866.1:p.Phe24026Leu | |
| XM_024453099.1:c.53839T>C (TTN) | XP_024308867.1:p.Phe17947Leu | |
| XM_024453100.1:c.43693T>C (TTN) | XP_024308868.1:p.Phe14565Leu |