Linked Data
ClinVar Variation Id:
332797
ClinVar RCV Id:
RCV000288345
RCV000287389
RCV000342338
RCV000382759
RCV000377156
RCV000616130
RCV001426889
RCV001726130
RCV002323537
RCV003486816
dbSNP Id:
rs368985748
ExAC:
2:179442851 C / T
gnomAD v2:
2-179442851-C-T
gnomAD v3:
2-178578124-C-T
gnomAD v4:
2-178578124-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578124C>T , CM000664.2:g.178578124C>T | GRCh38 |
| NC_000002.11:g.179442851C>T , CM000664.1:g.179442851C>T | GRCh37 |
| NC_000002.10:g.179151097C>T | NCBI36 |
| NG_011618.3:g.257679G>A , LRG_391:g.257679G>A | |
| NG_051363.1:g.60298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60687G>A (TTN) | ENSP00000343764.6:p.Pro20229= | |
| ENST00000342175.11:c.41772G>A (TTN) | ENSP00000340554.6:p.Pro13924= | |
| ENST00000359218.10:c.41571G>A (TTN) | ENSP00000352154.5:p.Pro13857= | |
| ENST00000342175.10:c.41772G>A (TTN) | ENSP00000340554.6:p.Pro13924= | |
| ENST00000342992.10:c.60687G>A (TTN) | ENSP00000343764.6:p.Pro20229= | |
| ENST00000359218.9:c.41571G>A (TTN) | ENSP00000352154.5:p.Pro13857= | |
| ENST00000460472.6:c.41196G>A (TTN) | ENSP00000434586.1:p.Pro13732= | |
| ENST00000589042.5:c.68391G>A (TTN) MANE Select | ENSP00000467141.1:p.Pro22797= | |
| ENST00000591111.5:c.63468G>A (TTN) | ENSP00000465570.1:p.Pro21156= | |
| ENST00000615779.4:c.63468G>A (TTN) | ENSP00000483597.1:p.Pro21156= | |
| NM_001256850.1:c.63468G>A (TTN) | NP_001243779.1:p.Pro21156= | |
| NM_001267550.2:c.68391G>A (TTN) MANE Select | NP_001254479.2:p.Pro22797= | |
| NM_003319.4:c.41196G>A (TTN) | NP_003310.4:p.Pro13732= | |
| NM_133378.4:c.60687G>A (TTN) | NP_596869.4:p.Pro20229= | |
| NM_133432.3:c.41571G>A (TTN) | NP_597676.3:p.Pro13857= | |
| NM_133437.4:c.41772G>A (TTN) | NP_597681.4:p.Pro13924= | |
| NR_038271.1:n.596+6675C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-4448C>T (TTN-AS1) | ||
| XM_011511729.1:c.67488G>A (TTN) | XP_011510031.1:p.Pro22496= | |
| XM_011511730.1:c.41382G>A (TTN) | XP_011510032.1:p.Pro13794= | |
| XM_011511731.1:c.41241G>A (TTN) | XP_011510033.1:p.Pro13747= | |
| XM_017004819.1:c.67284G>A (TTN) | XP_016860308.1:p.Pro22428= | |
| XM_017004820.1:c.62682G>A (TTN) | XP_016860309.1:p.Pro20894= | |
| XM_017004821.1:c.62679G>A (TTN) | XP_016860310.1:p.Pro20893= | |
| XM_017004822.1:c.59721G>A (TTN) | XP_016860311.1:p.Pro19907= | |
| XM_017004823.1:c.41337G>A (TTN) | XP_016860312.1:p.Pro13779= | |
| XM_024453094.1:c.62832G>A (TTN) | XP_024308862.1:p.Pro20944= | |
| XM_024453095.1:c.62829G>A (TTN) | XP_024308863.1:p.Pro20943= | |
| XM_024453096.1:c.62262G>A (TTN) | XP_024308864.1:p.Pro20754= | |
| XM_024453097.1:c.59604G>A (TTN) | XP_024308865.1:p.Pro19868= | |
| XM_024453098.1:c.59523G>A (TTN) | XP_024308866.1:p.Pro19841= | |
| XM_024453099.1:c.41286G>A (TTN) | XP_024308867.1:p.Pro13762= | |
| XM_024453100.1:c.31140G>A (TTN) | XP_024308868.1:p.Pro10380= |