Linked Data
ClinVar Variation Id:
191827
ClinVar RCV Id:
RCV000172168
RCV000244016
RCV000578003
RCV000577929
RCV000578083
RCV000600352
RCV001078580
RCV004535169
dbSNP Id:
rs201857158
ExAC:
2:179400360 C / T
gnomAD v2:
2-179400360-C-T
gnomAD v3:
2-178535633-C-T
gnomAD v4:
2-178535633-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535633C>T , CM000664.2:g.178535633C>T | GRCh38 |
| NC_000002.11:g.179400360C>T , CM000664.1:g.179400360C>T | GRCh37 |
| NC_000002.10:g.179108606C>T | NCBI36 |
| NG_011618.3:g.300170G>A , LRG_391:g.300170G>A | |
| NG_051363.1:g.17807C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93278G>A (TTN) | ENSP00000343764.6:p.Arg31093Lys | |
| ENST00000342175.11:c.74363G>A (TTN) | ENSP00000340554.6:p.Arg24788Lys | |
| ENST00000359218.10:c.74162G>A (TTN) | ENSP00000352154.5:p.Arg24721Lys | |
| ENST00000342175.10:c.74363G>A (TTN) | ENSP00000340554.6:p.Arg24788Lys | |
| ENST00000342992.10:c.93278G>A (TTN) | ENSP00000343764.6:p.Arg31093Lys | |
| ENST00000359218.9:c.74162G>A (TTN) | ENSP00000352154.5:p.Arg24721Lys | |
| ENST00000460472.6:c.73787G>A (TTN) | ENSP00000434586.1:p.Arg24596Lys | |
| ENST00000589042.5:c.100982G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33661Lys | |
| ENST00000591111.5:c.96059G>A (TTN) | ENSP00000465570.1:p.Arg32020Lys | |
| ENST00000615779.4:c.96059G>A (TTN) | ENSP00000483597.1:p.Arg32020Lys | |
| NM_001256850.1:c.96059G>A (TTN) | NP_001243779.1:p.Arg32020Lys | |
| NM_001267550.2:c.100982G>A (TTN) MANE Select | NP_001254479.2:p.Arg33661Lys | |
| NM_003319.4:c.73787G>A (TTN) | NP_003310.4:p.Arg24596Lys | |
| NM_133378.4:c.93278G>A (TTN) | NP_596869.4:p.Arg31093Lys | |
| NM_133432.3:c.74162G>A (TTN) | NP_597676.3:p.Arg24721Lys | |
| NM_133437.4:c.74363G>A (TTN) | NP_597681.4:p.Arg24788Lys | |
| NR_038271.1:n.446+11997C>T (TTN-AS1) | ||
| NR_038272.1:n.220-99C>T (TTN-AS1) | ||
| XM_011511729.1:c.100079G>A (TTN) | XP_011510031.1:p.Arg33360Lys | |
| XM_011511730.1:c.73973G>A (TTN) | XP_011510032.1:p.Arg24658Lys | |
| XM_011511731.1:c.73832G>A (TTN) | XP_011510033.1:p.Arg24611Lys | |
| XM_017004819.1:c.99875G>A (TTN) | XP_016860308.1:p.Arg33292Lys | |
| XM_017004820.1:c.95273G>A (TTN) | XP_016860309.1:p.Arg31758Lys | |
| XM_017004821.1:c.95270G>A (TTN) | XP_016860310.1:p.Arg31757Lys | |
| XM_017004822.1:c.92312G>A (TTN) | XP_016860311.1:p.Arg30771Lys | |
| XM_017004823.1:c.73928G>A (TTN) | XP_016860312.1:p.Arg24643Lys | |
| XM_024453094.1:c.95423G>A (TTN) | XP_024308862.1:p.Arg31808Lys | |
| XM_024453095.1:c.95420G>A (TTN) | XP_024308863.1:p.Arg31807Lys | |
| XM_024453096.1:c.94853G>A (TTN) | XP_024308864.1:p.Arg31618Lys | |
| XM_024453097.1:c.92195G>A (TTN) | XP_024308865.1:p.Arg30732Lys | |
| XM_024453098.1:c.92114G>A (TTN) | XP_024308866.1:p.Arg30705Lys | |
| XM_024453099.1:c.73877G>A (TTN) | XP_024308867.1:p.Arg24626Lys | |
| XM_024453100.1:c.63731G>A (TTN) | XP_024308868.1:p.Arg21244Lys |