Linked Data
ClinVar Variation Id:
332848
ClinVar RCV Id:
RCV000300967
RCV000302290
RCV000340868
RCV000353745
RCV000405891
RCV000734070
RCV001079002
RCV001723920
RCV002429296
dbSNP Id:
rs376188859
ExAC:
2:179478861 G / A
gnomAD v2:
2-179478861-G-A
gnomAD v3:
2-178614134-G-A
gnomAD v4:
2-178614134-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614134G>A , CM000664.2:g.178614134G>A | GRCh38 |
| NC_000002.11:g.179478861G>A , CM000664.1:g.179478861G>A | GRCh37 |
| NC_000002.10:g.179187106G>A | NCBI36 |
| NG_011618.3:g.221669C>T , LRG_391:g.221669C>T | |
| NG_051363.1:g.96308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41559C>T (TTN) | ENSP00000343764.6:p.Tyr13853= | |
| ENST00000342175.11:c.22644C>T (TTN) | ENSP00000340554.6:p.Tyr7548= | |
| ENST00000359218.10:c.22443C>T (TTN) | ENSP00000352154.5:p.Tyr7481= | |
| ENST00000342175.10:c.22644C>T (TTN) | ENSP00000340554.6:p.Tyr7548= | |
| ENST00000342992.10:c.41559C>T (TTN) | ENSP00000343764.6:p.Tyr13853= | |
| ENST00000359218.9:c.22443C>T (TTN) | ENSP00000352154.5:p.Tyr7481= | |
| ENST00000460472.6:c.22068C>T (TTN) | ENSP00000434586.1:p.Tyr7356= | |
| ENST00000589042.5:c.49263C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr16421= | |
| ENST00000591111.5:c.44340C>T (TTN) | ENSP00000465570.1:p.Tyr14780= | |
| ENST00000615779.4:c.44340C>T (TTN) | ENSP00000483597.1:p.Tyr14780= | |
| NM_001256850.1:c.44340C>T (TTN) | NP_001243779.1:p.Tyr14780= | |
| NM_001267550.2:c.49263C>T (TTN) MANE Select | NP_001254479.2:p.Tyr16421= | |
| NM_003319.4:c.22068C>T (TTN) | NP_003310.4:p.Tyr7356= | |
| NM_133378.4:c.41559C>T (TTN) | NP_596869.4:p.Tyr13853= | |
| NM_133432.3:c.22443C>T (TTN) | NP_597676.3:p.Tyr7481= | |
| NM_133437.4:c.22644C>T (TTN) | NP_597681.4:p.Tyr7548= | |
| NR_038271.1:n.882G>A (TTN-AS1) | ||
| XM_011511729.1:c.48360C>T (TTN) | XP_011510031.1:p.Tyr16120= | |
| XM_011511730.1:c.22254C>T (TTN) | XP_011510032.1:p.Tyr7418= | |
| XM_011511731.1:c.22113C>T (TTN) | XP_011510033.1:p.Tyr7371= | |
| XM_017004819.1:c.48156C>T (TTN) | XP_016860308.1:p.Tyr16052= | |
| XM_017004820.1:c.43554C>T (TTN) | XP_016860309.1:p.Tyr14518= | |
| XM_017004821.1:c.43551C>T (TTN) | XP_016860310.1:p.Tyr14517= | |
| XM_017004822.1:c.40593C>T (TTN) | XP_016860311.1:p.Tyr13531= | |
| XM_017004823.1:c.22209C>T (TTN) | XP_016860312.1:p.Tyr7403= | |
| XM_024453094.1:c.43704C>T (TTN) | XP_024308862.1:p.Tyr14568= | |
| XM_024453095.1:c.43701C>T (TTN) | XP_024308863.1:p.Tyr14567= | |
| XM_024453096.1:c.43134C>T (TTN) | XP_024308864.1:p.Tyr14378= | |
| XM_024453097.1:c.40476C>T (TTN) | XP_024308865.1:p.Tyr13492= | |
| XM_024453098.1:c.40395C>T (TTN) | XP_024308866.1:p.Tyr13465= | |
| XM_024453099.1:c.22158C>T (TTN) | XP_024308867.1:p.Tyr7386= | |
| XM_024453100.1:c.12012C>T (TTN) | XP_024308868.1:p.Tyr4004= |