Linked Data
ClinVar Variation Id:
47687
ClinVar RCV Id:
RCV000040956
RCV000261411
RCV000316683
RCV000295377
RCV000374814
RCV000350411
RCV000488073
RCV000621052
RCV000768822
RCV001084222
RCV004528226
dbSNP Id:
rs55938627
ExAC:
2:179396114 C / T
gnomAD v2:
2-179396114-C-T
gnomAD v3:
2-178531387-C-T
gnomAD v4:
2-178531387-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531387C>T , CM000664.2:g.178531387C>T | GRCh38 |
| NC_000002.11:g.179396114C>T , CM000664.1:g.179396114C>T | GRCh37 |
| NC_000002.10:g.179104360C>T | NCBI36 |
| NG_011618.3:g.304416G>A , LRG_391:g.304416G>A | |
| NG_051363.1:g.13561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97524G>A (TTN) | ENSP00000343764.6:p.Ser32508= | |
| ENST00000342175.11:c.78609G>A (TTN) | ENSP00000340554.6:p.Ser26203= | |
| ENST00000359218.10:c.78408G>A (TTN) | ENSP00000352154.5:p.Ser26136= | |
| ENST00000342175.10:c.78609G>A (TTN) | ENSP00000340554.6:p.Ser26203= | |
| ENST00000342992.10:c.97524G>A (TTN) | ENSP00000343764.6:p.Ser32508= | |
| ENST00000359218.9:c.78408G>A (TTN) | ENSP00000352154.5:p.Ser26136= | |
| ENST00000460472.6:c.78033G>A (TTN) | ENSP00000434586.1:p.Ser26011= | |
| ENST00000589042.5:c.105228G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser35076= | |
| ENST00000591111.5:c.100305G>A (TTN) | ENSP00000465570.1:p.Ser33435= | |
| ENST00000615779.4:c.100305G>A (TTN) | ENSP00000483597.1:p.Ser33435= | |
| NM_001256850.1:c.100305G>A (TTN) | NP_001243779.1:p.Ser33435= | |
| NM_001267550.2:c.105228G>A (TTN) MANE Select | NP_001254479.2:p.Ser35076= | |
| NM_003319.4:c.78033G>A (TTN) | NP_003310.4:p.Ser26011= | |
| NM_133378.4:c.97524G>A (TTN) | NP_596869.4:p.Ser32508= | |
| NM_133432.3:c.78408G>A (TTN) | NP_597676.3:p.Ser26136= | |
| NM_133437.4:c.78609G>A (TTN) | NP_597681.4:p.Ser26203= | |
| NR_038271.1:n.446+7751C>T (TTN-AS1) | ||
| NR_038272.1:n.220-4345C>T (TTN-AS1) | ||
| XM_011511729.1:c.104325G>A (TTN) | XP_011510031.1:p.Ser34775= | |
| XM_011511730.1:c.78219G>A (TTN) | XP_011510032.1:p.Ser26073= | |
| XM_011511731.1:c.78078G>A (TTN) | XP_011510033.1:p.Ser26026= | |
| XM_017004819.1:c.104121G>A (TTN) | XP_016860308.1:p.Ser34707= | |
| XM_017004820.1:c.99519G>A (TTN) | XP_016860309.1:p.Ser33173= | |
| XM_017004821.1:c.99516G>A (TTN) | XP_016860310.1:p.Ser33172= | |
| XM_017004822.1:c.96558G>A (TTN) | XP_016860311.1:p.Ser32186= | |
| XM_017004823.1:c.78174G>A (TTN) | XP_016860312.1:p.Ser26058= | |
| XM_024453094.1:c.99669G>A (TTN) | XP_024308862.1:p.Ser33223= | |
| XM_024453095.1:c.99666G>A (TTN) | XP_024308863.1:p.Ser33222= | |
| XM_024453096.1:c.99099G>A (TTN) | XP_024308864.1:p.Ser33033= | |
| XM_024453097.1:c.96441G>A (TTN) | XP_024308865.1:p.Ser32147= | |
| XM_024453098.1:c.96360G>A (TTN) | XP_024308866.1:p.Ser32120= | |
| XM_024453099.1:c.78123G>A (TTN) | XP_024308867.1:p.Ser26041= | |
| XM_024453100.1:c.67977G>A (TTN) | XP_024308868.1:p.Ser22659= |