Linked Data
ClinVar Variation Id:
388387
ClinVar RCV Id:
RCV000428661
RCV000950980
RCV001573781
RCV001840555
RCV001840552
RCV001840553
RCV001840554
RCV002365542
RCV002488952
dbSNP Id:
rs557737090
ExAC:
2:179412485 G / A
gnomAD v2:
2-179412485-G-A
gnomAD v3:
2-178547758-G-A
gnomAD v4:
2-178547758-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547758G>A , CM000664.2:g.178547758G>A | GRCh38 |
| NC_000002.11:g.179412485G>A , CM000664.1:g.179412485G>A | GRCh37 |
| NC_000002.10:g.179120731G>A | NCBI36 |
| NG_011618.3:g.288045C>T , LRG_391:g.288045C>T | |
| NG_051363.1:g.29932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86164C>T (TTN) | ENSP00000343764.6:p.Leu28722= | |
| ENST00000342175.11:c.67249C>T (TTN) | ENSP00000340554.6:p.Leu22417= | |
| ENST00000359218.10:c.67048C>T (TTN) | ENSP00000352154.5:p.Leu22350= | |
| ENST00000342175.10:c.67249C>T (TTN) | ENSP00000340554.6:p.Leu22417= | |
| ENST00000342992.10:c.86164C>T (TTN) | ENSP00000343764.6:p.Leu28722= | |
| ENST00000359218.9:c.67048C>T (TTN) | ENSP00000352154.5:p.Leu22350= | |
| ENST00000460472.6:c.66673C>T (TTN) | ENSP00000434586.1:p.Leu22225= | |
| ENST00000589042.5:c.93868C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu31290= | |
| ENST00000591111.5:c.88945C>T (TTN) | ENSP00000465570.1:p.Leu29649= | |
| ENST00000615779.4:c.88945C>T (TTN) | ENSP00000483597.1:p.Leu29649= | |
| NM_001256850.1:c.88945C>T (TTN) | NP_001243779.1:p.Leu29649= | |
| NM_001267550.2:c.93868C>T (TTN) MANE Select | NP_001254479.2:p.Leu31290= | |
| NM_003319.4:c.66673C>T (TTN) | NP_003310.4:p.Leu22225= | |
| NM_133378.4:c.86164C>T (TTN) | NP_596869.4:p.Leu28722= | |
| NM_133432.3:c.67048C>T (TTN) | NP_597676.3:p.Leu22350= | |
| NM_133437.4:c.67249C>T (TTN) | NP_597681.4:p.Leu22417= | |
| NR_038271.1:n.447-23542G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+5397G>A (TTN-AS1) | ||
| XM_011511729.1:c.92965C>T (TTN) | XP_011510031.1:p.Leu30989= | |
| XM_011511730.1:c.66859C>T (TTN) | XP_011510032.1:p.Leu22287= | |
| XM_011511731.1:c.66718C>T (TTN) | XP_011510033.1:p.Leu22240= | |
| XM_017004819.1:c.92761C>T (TTN) | XP_016860308.1:p.Leu30921= | |
| XM_017004820.1:c.88159C>T (TTN) | XP_016860309.1:p.Leu29387= | |
| XM_017004821.1:c.88156C>T (TTN) | XP_016860310.1:p.Leu29386= | |
| XM_017004822.1:c.85198C>T (TTN) | XP_016860311.1:p.Leu28400= | |
| XM_017004823.1:c.66814C>T (TTN) | XP_016860312.1:p.Leu22272= | |
| XM_024453094.1:c.88309C>T (TTN) | XP_024308862.1:p.Leu29437= | |
| XM_024453095.1:c.88306C>T (TTN) | XP_024308863.1:p.Leu29436= | |
| XM_024453096.1:c.87739C>T (TTN) | XP_024308864.1:p.Leu29247= | |
| XM_024453097.1:c.85081C>T (TTN) | XP_024308865.1:p.Leu28361= | |
| XM_024453098.1:c.85000C>T (TTN) | XP_024308866.1:p.Leu28334= | |
| XM_024453099.1:c.66763C>T (TTN) | XP_024308867.1:p.Leu22255= | |
| XM_024453100.1:c.56617C>T (TTN) | XP_024308868.1:p.Leu18873= |