Linked Data
ClinVar Variation Id:
405004
ClinVar RCV Id:
RCV000475726
dbSNP Id:
rs750310775
ExAC:
2:179478949 G / T
gnomAD v2:
2-179478949-G-T
gnomAD v4:
2-178614222-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614222G>T , CM000664.2:g.178614222G>T | GRCh38 |
| NC_000002.11:g.179478949G>T , CM000664.1:g.179478949G>T | GRCh37 |
| NC_000002.10:g.179187194G>T | NCBI36 |
| NG_011618.3:g.221581C>A , LRG_391:g.221581C>A | |
| NG_051363.1:g.96396G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41471C>A (TTN) | ENSP00000343764.6:p.Ala13824Glu | |
| ENST00000342175.11:c.22556C>A (TTN) | ENSP00000340554.6:p.Ala7519Glu | |
| ENST00000359218.10:c.22355C>A (TTN) | ENSP00000352154.5:p.Ala7452Glu | |
| ENST00000342175.10:c.22556C>A (TTN) | ENSP00000340554.6:p.Ala7519Glu | |
| ENST00000342992.10:c.41471C>A (TTN) | ENSP00000343764.6:p.Ala13824Glu | |
| ENST00000359218.9:c.22355C>A (TTN) | ENSP00000352154.5:p.Ala7452Glu | |
| ENST00000460472.6:c.21980C>A (TTN) | ENSP00000434586.1:p.Ala7327Glu | |
| ENST00000589042.5:c.49175C>A (TTN) MANE Select | ENSP00000467141.1:p.Ala16392Glu | |
| ENST00000591111.5:c.44252C>A (TTN) | ENSP00000465570.1:p.Ala14751Glu | |
| ENST00000615779.4:c.44252C>A (TTN) | ENSP00000483597.1:p.Ala14751Glu | |
| NM_001256850.1:c.44252C>A (TTN) | NP_001243779.1:p.Ala14751Glu | |
| NM_001267550.2:c.49175C>A (TTN) MANE Select | NP_001254479.2:p.Ala16392Glu | |
| NM_003319.4:c.21980C>A (TTN) | NP_003310.4:p.Ala7327Glu | |
| NM_133378.4:c.41471C>A (TTN) | NP_596869.4:p.Ala13824Glu | |
| NM_133432.3:c.22355C>A (TTN) | NP_597676.3:p.Ala7452Glu | |
| NM_133437.4:c.22556C>A (TTN) | NP_597681.4:p.Ala7519Glu | |
| NR_038271.1:n.970G>T (TTN-AS1) | ||
| XM_011511729.1:c.48272C>A (TTN) | XP_011510031.1:p.Ala16091Glu | |
| XM_011511730.1:c.22166C>A (TTN) | XP_011510032.1:p.Ala7389Glu | |
| XM_011511731.1:c.22025C>A (TTN) | XP_011510033.1:p.Ala7342Glu | |
| XM_017004819.1:c.48068C>A (TTN) | XP_016860308.1:p.Ala16023Glu | |
| XM_017004820.1:c.43466C>A (TTN) | XP_016860309.1:p.Ala14489Glu | |
| XM_017004821.1:c.43463C>A (TTN) | XP_016860310.1:p.Ala14488Glu | |
| XM_017004822.1:c.40505C>A (TTN) | XP_016860311.1:p.Ala13502Glu | |
| XM_017004823.1:c.22121C>A (TTN) | XP_016860312.1:p.Ala7374Glu | |
| XM_024453094.1:c.43616C>A (TTN) | XP_024308862.1:p.Ala14539Glu | |
| XM_024453095.1:c.43613C>A (TTN) | XP_024308863.1:p.Ala14538Glu | |
| XM_024453096.1:c.43046C>A (TTN) | XP_024308864.1:p.Ala14349Glu | |
| XM_024453097.1:c.40388C>A (TTN) | XP_024308865.1:p.Ala13463Glu | |
| XM_024453098.1:c.40307C>A (TTN) | XP_024308866.1:p.Ala13436Glu | |
| XM_024453099.1:c.22070C>A (TTN) | XP_024308867.1:p.Ala7357Glu | |
| XM_024453100.1:c.11924C>A (TTN) | XP_024308868.1:p.Ala3975Glu |