Linked Data
ClinVar Variation Id:
47224
ClinVar RCV Id:
RCV000040494
RCV000204359
RCV001133051
RCV001136493
RCV001133050
RCV001133052
RCV001701487
RCV001136494
RCV003149653
RCV004541167
dbSNP Id:
rs72646864
ExAC:
2:179448324 A / G
gnomAD v2:
2-179448324-A-G
gnomAD v3:
2-178583597-A-G
gnomAD v4:
2-178583597-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583597A>G , CM000664.2:g.178583597A>G | GRCh38 |
| NC_000002.11:g.179448324A>G , CM000664.1:g.179448324A>G | GRCh37 |
| NC_000002.10:g.179156570A>G | NCBI36 |
| NG_011618.3:g.252206T>C , LRG_391:g.252206T>C | |
| NG_051363.1:g.65771A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57871+10T>C (TTN) | ENSP00000343764.6:n.57871+10T>C | |
| ENST00000342175.11:c.38956+10T>C (TTN) | ENSP00000340554.6:n.38956+10T>C | |
| ENST00000359218.10:c.38755+10T>C (TTN) | ENSP00000352154.5:n.38755+10T>C | |
| ENST00000342175.10:c.38956+10T>C (TTN) | ENSP00000340554.6:n.38956+10T>C | |
| ENST00000342992.10:c.57871+10T>C (TTN) | ENSP00000343764.6:n.57871+10T>C | |
| ENST00000359218.9:c.38755+10T>C (TTN) | ENSP00000352154.5:n.38755+10T>C | |
| ENST00000460472.6:c.38380+10T>C (TTN) | ENSP00000434586.1:n.38380+10T>C | |
| ENST00000589042.5:c.65575+10T>C (TTN) MANE Select | ENSP00000467141.1:n.65575+10T>C | |
| ENST00000591111.5:c.60652+10T>C (TTN) | ENSP00000465570.1:n.60652+10T>C | |
| ENST00000615779.4:c.60652+10T>C (TTN) | ENSP00000483597.1:n.60652+10T>C | |
| NM_001256850.1:c.60652+10T>C (TTN) | NP_001243779.1:n.60652+10T>C | |
| NM_001267550.2:c.65575+10T>C (TTN) MANE Select | NP_001254479.2:n.65575+10T>C | |
| NM_003319.4:c.38380+10T>C (TTN) | NP_003310.4:n.38380+10T>C | |
| NM_133378.4:c.57871+10T>C (TTN) | NP_596869.4:n.57871+10T>C | |
| NM_133432.3:c.38755+10T>C (TTN) | NP_597676.3:n.38755+10T>C | |
| NM_133437.4:c.38956+10T>C (TTN) | NP_597681.4:n.38956+10T>C | |
| NR_038271.1:n.596+12148A>G (TTN-AS1) | ||
| NR_038272.1:n.2443A>G (TTN-AS1) | ||
| XM_011511729.1:c.64672+10T>C (TTN) | XP_011510031.1:n.64672+10T>C | |
| XM_011511730.1:c.38566+10T>C (TTN) | XP_011510032.1:n.38566+10T>C | |
| XM_011511731.1:c.38425+10T>C (TTN) | XP_011510033.1:n.38425+10T>C | |
| XM_017004819.1:c.64468+10T>C (TTN) | XP_016860308.1:n.64468+10T>C | |
| XM_017004820.1:c.59866+10T>C (TTN) | XP_016860309.1:n.59866+10T>C | |
| XM_017004821.1:c.59863+10T>C (TTN) | XP_016860310.1:n.59863+10T>C | |
| XM_017004822.1:c.56905+10T>C (TTN) | XP_016860311.1:n.56905+10T>C | |
| XM_017004823.1:c.38521+10T>C (TTN) | XP_016860312.1:n.38521+10T>C | |
| XM_024453094.1:c.60016+10T>C (TTN) | XP_024308862.1:n.60016+10T>C | |
| XM_024453095.1:c.60013+10T>C (TTN) | XP_024308863.1:n.60013+10T>C | |
| XM_024453096.1:c.59446+10T>C (TTN) | XP_024308864.1:n.59446+10T>C | |
| XM_024453097.1:c.56788+10T>C (TTN) | XP_024308865.1:n.56788+10T>C | |
| XM_024453098.1:c.56707+10T>C (TTN) | XP_024308866.1:n.56707+10T>C | |
| XM_024453099.1:c.38470+10T>C (TTN) | XP_024308867.1:n.38470+10T>C | |
| XM_024453100.1:c.28324+10T>C (TTN) | XP_024308868.1:n.28324+10T>C |