Linked Data
ClinVar Variation Id:
47182
ClinVar RCV Id:
RCV000040452
RCV000247961
RCV000545656
RCV001082861
RCV001135748
RCV001135747
RCV001135744
RCV001135745
RCV001135746
RCV001171290
dbSNP Id:
rs72646848
ExAC:
2:179454067 G / T
gnomAD v2:
2-179454067-G-T
gnomAD v3:
2-178589340-G-T
gnomAD v4:
2-178589340-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589340G>T , CM000664.2:g.178589340G>T | GRCh38 |
| NC_000002.11:g.179454067G>T , CM000664.1:g.179454067G>T | GRCh37 |
| NC_000002.10:g.179162313G>T | NCBI36 |
| NG_011618.3:g.246463C>A , LRG_391:g.246463C>A | |
| NG_051363.1:g.71514G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54681C>A (TTN) | ENSP00000343764.6:p.Gly18227= | |
| ENST00000342175.11:c.35766C>A (TTN) | ENSP00000340554.6:p.Gly11922= | |
| ENST00000359218.10:c.35565C>A (TTN) | ENSP00000352154.5:p.Gly11855= | |
| ENST00000342175.10:c.35766C>A (TTN) | ENSP00000340554.6:p.Gly11922= | |
| ENST00000342992.10:c.54681C>A (TTN) | ENSP00000343764.6:p.Gly18227= | |
| ENST00000359218.9:c.35565C>A (TTN) | ENSP00000352154.5:p.Gly11855= | |
| ENST00000460472.6:c.35190C>A (TTN) | ENSP00000434586.1:p.Gly11730= | |
| ENST00000589042.5:c.62385C>A (TTN) MANE Select | ENSP00000467141.1:p.Gly20795= | |
| ENST00000591111.5:c.57462C>A (TTN) | ENSP00000465570.1:p.Gly19154= | |
| ENST00000615779.4:c.57462C>A (TTN) | ENSP00000483597.1:p.Gly19154= | |
| NM_001256850.1:c.57462C>A (TTN) | NP_001243779.1:p.Gly19154= | |
| NM_001267550.2:c.62385C>A (TTN) MANE Select | NP_001254479.2:p.Gly20795= | |
| NM_003319.4:c.35190C>A (TTN) | NP_003310.4:p.Gly11730= | |
| NM_133378.4:c.54681C>A (TTN) | NP_596869.4:p.Gly18227= | |
| NM_133432.3:c.35565C>A (TTN) | NP_597676.3:p.Gly11855= | |
| NM_133437.4:c.35766C>A (TTN) | NP_597681.4:p.Gly11922= | |
| NR_038271.1:n.597-8256G>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1799G>T (TTN-AS1) | ||
| XM_011511729.1:c.61482C>A (TTN) | XP_011510031.1:p.Gly20494= | |
| XM_011511730.1:c.35376C>A (TTN) | XP_011510032.1:p.Gly11792= | |
| XM_011511731.1:c.35235C>A (TTN) | XP_011510033.1:p.Gly11745= | |
| XM_017004819.1:c.61278C>A (TTN) | XP_016860308.1:p.Gly20426= | |
| XM_017004820.1:c.56676C>A (TTN) | XP_016860309.1:p.Gly18892= | |
| XM_017004821.1:c.56673C>A (TTN) | XP_016860310.1:p.Gly18891= | |
| XM_017004822.1:c.53715C>A (TTN) | XP_016860311.1:p.Gly17905= | |
| XM_017004823.1:c.35331C>A (TTN) | XP_016860312.1:p.Gly11777= | |
| XM_024453094.1:c.56826C>A (TTN) | XP_024308862.1:p.Gly18942= | |
| XM_024453095.1:c.56823C>A (TTN) | XP_024308863.1:p.Gly18941= | |
| XM_024453096.1:c.56256C>A (TTN) | XP_024308864.1:p.Gly18752= | |
| XM_024453097.1:c.53598C>A (TTN) | XP_024308865.1:p.Gly17866= | |
| XM_024453098.1:c.53517C>A (TTN) | XP_024308866.1:p.Gly17839= | |
| XM_024453099.1:c.35280C>A (TTN) | XP_024308867.1:p.Gly11760= | |
| XM_024453100.1:c.25134C>A (TTN) | XP_024308868.1:p.Gly8378= |