Linked Data
ClinVar Variation Id:
192139
dbSNP Id:
rs199761901
ExAC:
2:179404292 C / T
gnomAD v2:
2-179404292-C-T
gnomAD v3:
2-178539565-C-T
gnomAD v4:
2-178539565-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539565C>T , CM000664.2:g.178539565C>T | GRCh38 |
| NC_000002.11:g.179404292C>T , CM000664.1:g.179404292C>T | GRCh37 |
| NC_000002.10:g.179112538C>T | NCBI36 |
| NG_011618.3:g.296238G>A , LRG_391:g.296238G>A | |
| NG_051363.1:g.21739C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90796G>A (TTN) | ENSP00000343764.6:p.Glu30266Lys | |
| ENST00000342175.11:c.71881G>A (TTN) | ENSP00000340554.6:p.Glu23961Lys | |
| ENST00000359218.10:c.71680G>A (TTN) | ENSP00000352154.5:p.Glu23894Lys | |
| ENST00000342175.10:c.71881G>A (TTN) | ENSP00000340554.6:p.Glu23961Lys | |
| ENST00000342992.10:c.90796G>A (TTN) | ENSP00000343764.6:p.Glu30266Lys | |
| ENST00000359218.9:c.71680G>A (TTN) | ENSP00000352154.5:p.Glu23894Lys | |
| ENST00000460472.6:c.71305G>A (TTN) | ENSP00000434586.1:p.Glu23769Lys | |
| ENST00000589042.5:c.98500G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu32834Lys | |
| ENST00000591111.5:c.93577G>A (TTN) | ENSP00000465570.1:p.Glu31193Lys | |
| ENST00000615779.4:c.93577G>A (TTN) | ENSP00000483597.1:p.Glu31193Lys | |
| NM_001256850.1:c.93577G>A (TTN) | NP_001243779.1:p.Glu31193Lys | |
| NM_001267550.2:c.98500G>A (TTN) MANE Select | NP_001254479.2:p.Glu32834Lys | |
| NM_003319.4:c.71305G>A (TTN) | NP_003310.4:p.Glu23769Lys | |
| NM_133378.4:c.90796G>A (TTN) | NP_596869.4:p.Glu30266Lys | |
| NM_133432.3:c.71680G>A (TTN) | NP_597676.3:p.Glu23894Lys | |
| NM_133437.4:c.71881G>A (TTN) | NP_597681.4:p.Glu23961Lys | |
| NR_038271.1:n.446+15929C>T (TTN-AS1) | ||
| NR_038272.1:n.1515C>T (TTN-AS1) | ||
| XM_011511729.1:c.97597G>A (TTN) | XP_011510031.1:p.Glu32533Lys | |
| XM_011511730.1:c.71491G>A (TTN) | XP_011510032.1:p.Glu23831Lys | |
| XM_011511731.1:c.71350G>A (TTN) | XP_011510033.1:p.Glu23784Lys | |
| XM_017004819.1:c.97393G>A (TTN) | XP_016860308.1:p.Glu32465Lys | |
| XM_017004820.1:c.92791G>A (TTN) | XP_016860309.1:p.Glu30931Lys | |
| XM_017004821.1:c.92788G>A (TTN) | XP_016860310.1:p.Glu30930Lys | |
| XM_017004822.1:c.89830G>A (TTN) | XP_016860311.1:p.Glu29944Lys | |
| XM_017004823.1:c.71446G>A (TTN) | XP_016860312.1:p.Glu23816Lys | |
| XM_024453094.1:c.92941G>A (TTN) | XP_024308862.1:p.Glu30981Lys | |
| XM_024453095.1:c.92938G>A (TTN) | XP_024308863.1:p.Glu30980Lys | |
| XM_024453096.1:c.92371G>A (TTN) | XP_024308864.1:p.Glu30791Lys | |
| XM_024453097.1:c.89713G>A (TTN) | XP_024308865.1:p.Glu29905Lys | |
| XM_024453098.1:c.89632G>A (TTN) | XP_024308866.1:p.Glu29878Lys | |
| XM_024453099.1:c.71395G>A (TTN) | XP_024308867.1:p.Glu23799Lys | |
| XM_024453100.1:c.61249G>A (TTN) | XP_024308868.1:p.Glu20417Lys |