Linked Data
ClinVar Variation Id:
47572
ClinVar RCV Id:
RCV000040841
RCV000415631
RCV000537275
RCV000415660
RCV000727795
RCV001133976
RCV001133977
RCV001135491
RCV001135492
RCV002371847
dbSNP Id:
rs373514079
ExAC:
2:179407792 A / G
gnomAD v2:
2-179407792-A-G
gnomAD v3:
2-178543065-A-G
gnomAD v4:
2-178543065-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543065A>G , CM000664.2:g.178543065A>G | GRCh38 |
| NC_000002.11:g.179407792A>G , CM000664.1:g.179407792A>G | GRCh37 |
| NC_000002.10:g.179116038A>G | NCBI36 |
| NG_011618.3:g.292738T>C , LRG_391:g.292738T>C | |
| NG_051363.1:g.25239A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89200+4T>C (TTN) | ENSP00000343764.6:n.89200+4T>C | |
| ENST00000342175.11:c.70285+4T>C (TTN) | ENSP00000340554.6:n.70285+4T>C | |
| ENST00000359218.10:c.70084+4T>C (TTN) | ENSP00000352154.5:n.70084+4T>C | |
| ENST00000342175.10:c.70285+4T>C (TTN) | ENSP00000340554.6:n.70285+4T>C | |
| ENST00000342992.10:c.89200+4T>C (TTN) | ENSP00000343764.6:n.89200+4T>C | |
| ENST00000359218.9:c.70084+4T>C (TTN) | ENSP00000352154.5:n.70084+4T>C | |
| ENST00000460472.6:c.69709+4T>C (TTN) | ENSP00000434586.1:n.69709+4T>C | |
| ENST00000589042.5:c.96904+4T>C (TTN) MANE Select | ENSP00000467141.1:n.96904+4T>C | |
| ENST00000591111.5:c.91981+4T>C (TTN) | ENSP00000465570.1:n.91981+4T>C | |
| ENST00000615779.4:c.91981+4T>C (TTN) | ENSP00000483597.1:n.91981+4T>C | |
| NM_001256850.1:c.91981+4T>C (TTN) | NP_001243779.1:n.91981+4T>C | |
| NM_001267550.2:c.96904+4T>C (TTN) MANE Select | NP_001254479.2:n.96904+4T>C | |
| NM_003319.4:c.69709+4T>C (TTN) | NP_003310.4:n.69709+4T>C | |
| NM_133378.4:c.89200+4T>C (TTN) | NP_596869.4:n.89200+4T>C | |
| NM_133432.3:c.70084+4T>C (TTN) | NP_597676.3:n.70084+4T>C | |
| NM_133437.4:c.70285+4T>C (TTN) | NP_597681.4:n.70285+4T>C | |
| NR_038271.1:n.446+19429A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+704A>G (TTN-AS1) | ||
| XM_011511729.1:c.96001+4T>C (TTN) | XP_011510031.1:n.96001+4T>C | |
| XM_011511730.1:c.69895+4T>C (TTN) | XP_011510032.1:n.69895+4T>C | |
| XM_011511731.1:c.69754+4T>C (TTN) | XP_011510033.1:n.69754+4T>C | |
| XM_017004819.1:c.95797+4T>C (TTN) | XP_016860308.1:n.95797+4T>C | |
| XM_017004820.1:c.91195+4T>C (TTN) | XP_016860309.1:n.91195+4T>C | |
| XM_017004821.1:c.91192+4T>C (TTN) | XP_016860310.1:n.91192+4T>C | |
| XM_017004822.1:c.88234+4T>C (TTN) | XP_016860311.1:n.88234+4T>C | |
| XM_017004823.1:c.69850+4T>C (TTN) | XP_016860312.1:n.69850+4T>C | |
| XM_024453094.1:c.91345+4T>C (TTN) | XP_024308862.1:n.91345+4T>C | |
| XM_024453095.1:c.91342+4T>C (TTN) | XP_024308863.1:n.91342+4T>C | |
| XM_024453096.1:c.90775+4T>C (TTN) | XP_024308864.1:n.90775+4T>C | |
| XM_024453097.1:c.88117+4T>C (TTN) | XP_024308865.1:n.88117+4T>C | |
| XM_024453098.1:c.88036+4T>C (TTN) | XP_024308866.1:n.88036+4T>C | |
| XM_024453099.1:c.69799+4T>C (TTN) | XP_024308867.1:n.69799+4T>C | |
| XM_024453100.1:c.59653+4T>C (TTN) | XP_024308868.1:n.59653+4T>C |