Linked Data
ClinVar Variation Id:
229480
ClinVar RCV Id:
RCV000223279
RCV000462468
RCV000734811
RCV001131883
RCV001131884
RCV001131880
RCV001131881
RCV001131882
RCV003335235
dbSNP Id:
rs771358314
ExAC:
2:179455928 G / A
gnomAD v2:
2-179455928-G-A
gnomAD v3:
2-178591201-G-A
gnomAD v4:
2-178591201-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591201G>A , CM000664.2:g.178591201G>A | GRCh38 |
| NC_000002.11:g.179455928G>A , CM000664.1:g.179455928G>A | GRCh37 |
| NC_000002.10:g.179164174G>A | NCBI36 |
| NG_011618.3:g.244602C>T , LRG_391:g.244602C>T | |
| NG_051363.1:g.73375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52820C>T (TTN) | ENSP00000343764.6:p.Pro17607Leu | |
| ENST00000342175.11:c.33905C>T (TTN) | ENSP00000340554.6:p.Pro11302Leu | |
| ENST00000359218.10:c.33704C>T (TTN) | ENSP00000352154.5:p.Pro11235Leu | |
| ENST00000342175.10:c.33905C>T (TTN) | ENSP00000340554.6:p.Pro11302Leu | |
| ENST00000342992.10:c.52820C>T (TTN) | ENSP00000343764.6:p.Pro17607Leu | |
| ENST00000359218.9:c.33704C>T (TTN) | ENSP00000352154.5:p.Pro11235Leu | |
| ENST00000460472.6:c.33329C>T (TTN) | ENSP00000434586.1:p.Pro11110Leu | |
| ENST00000589042.5:c.60524C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro20175Leu | |
| ENST00000591111.5:c.55601C>T (TTN) | ENSP00000465570.1:p.Pro18534Leu | |
| ENST00000615779.4:c.55601C>T (TTN) | ENSP00000483597.1:p.Pro18534Leu | |
| NM_001256850.1:c.55601C>T (TTN) | NP_001243779.1:p.Pro18534Leu | |
| NM_001267550.2:c.60524C>T (TTN) MANE Select | NP_001254479.2:p.Pro20175Leu | |
| NM_003319.4:c.33329C>T (TTN) | NP_003310.4:p.Pro11110Leu | |
| NM_133378.4:c.52820C>T (TTN) | NP_596869.4:p.Pro17607Leu | |
| NM_133432.3:c.33704C>T (TTN) | NP_597676.3:p.Pro11235Leu | |
| NM_133437.4:c.33905C>T (TTN) | NP_597681.4:p.Pro11302Leu | |
| NR_038271.1:n.597-6395G>A (TTN-AS1) | ||
| NR_038272.1:n.3251G>A (TTN-AS1) | ||
| XM_011511729.1:c.59621C>T (TTN) | XP_011510031.1:p.Pro19874Leu | |
| XM_011511730.1:c.33515C>T (TTN) | XP_011510032.1:p.Pro11172Leu | |
| XM_011511731.1:c.33374C>T (TTN) | XP_011510033.1:p.Pro11125Leu | |
| XM_017004819.1:c.59417C>T (TTN) | XP_016860308.1:p.Pro19806Leu | |
| XM_017004820.1:c.54815C>T (TTN) | XP_016860309.1:p.Pro18272Leu | |
| XM_017004821.1:c.54812C>T (TTN) | XP_016860310.1:p.Pro18271Leu | |
| XM_017004822.1:c.51854C>T (TTN) | XP_016860311.1:p.Pro17285Leu | |
| XM_017004823.1:c.33470C>T (TTN) | XP_016860312.1:p.Pro11157Leu | |
| XM_024453094.1:c.54965C>T (TTN) | XP_024308862.1:p.Pro18322Leu | |
| XM_024453095.1:c.54962C>T (TTN) | XP_024308863.1:p.Pro18321Leu | |
| XM_024453096.1:c.54395C>T (TTN) | XP_024308864.1:p.Pro18132Leu | |
| XM_024453097.1:c.51737C>T (TTN) | XP_024308865.1:p.Pro17246Leu | |
| XM_024453098.1:c.51656C>T (TTN) | XP_024308866.1:p.Pro17219Leu | |
| XM_024453099.1:c.33419C>T (TTN) | XP_024308867.1:p.Pro11140Leu | |
| XM_024453100.1:c.23273C>T (TTN) | XP_024308868.1:p.Pro7758Leu |