Linked Data
ClinVar Variation Id:
229565
dbSNP Id:
rs376371272
ExAC:
2:179397908 G / T
gnomAD v2:
2-179397908-G-T
gnomAD v3:
2-178533181-G-T
gnomAD v4:
2-178533181-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533181G>T , CM000664.2:g.178533181G>T | GRCh38 |
| NC_000002.11:g.179397908G>T , CM000664.1:g.179397908G>T | GRCh37 |
| NC_000002.10:g.179106154G>T | NCBI36 |
| NG_011618.3:g.302622C>A , LRG_391:g.302622C>A | |
| NG_051363.1:g.15355G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95730C>A (TTN) | ENSP00000343764.6:p.Asp31910Glu | |
| ENST00000342175.11:c.76815C>A (TTN) | ENSP00000340554.6:p.Asp25605Glu | |
| ENST00000359218.10:c.76614C>A (TTN) | ENSP00000352154.5:p.Asp25538Glu | |
| ENST00000342175.10:c.76815C>A (TTN) | ENSP00000340554.6:p.Asp25605Glu | |
| ENST00000342992.10:c.95730C>A (TTN) | ENSP00000343764.6:p.Asp31910Glu | |
| ENST00000359218.9:c.76614C>A (TTN) | ENSP00000352154.5:p.Asp25538Glu | |
| ENST00000460472.6:c.76239C>A (TTN) | ENSP00000434586.1:p.Asp25413Glu | |
| ENST00000589042.5:c.103434C>A (TTN) MANE Select | ENSP00000467141.1:p.Asp34478Glu | |
| ENST00000591111.5:c.98511C>A (TTN) | ENSP00000465570.1:p.Asp32837Glu | |
| ENST00000615779.4:c.98511C>A (TTN) | ENSP00000483597.1:p.Asp32837Glu | |
| NM_001256850.1:c.98511C>A (TTN) | NP_001243779.1:p.Asp32837Glu | |
| NM_001267550.2:c.103434C>A (TTN) MANE Select | NP_001254479.2:p.Asp34478Glu | |
| NM_003319.4:c.76239C>A (TTN) | NP_003310.4:p.Asp25413Glu | |
| NM_133378.4:c.95730C>A (TTN) | NP_596869.4:p.Asp31910Glu | |
| NM_133432.3:c.76614C>A (TTN) | NP_597676.3:p.Asp25538Glu | |
| NM_133437.4:c.76815C>A (TTN) | NP_597681.4:p.Asp25605Glu | |
| NR_038271.1:n.446+9545G>T (TTN-AS1) | ||
| NR_038272.1:n.220-2551G>T (TTN-AS1) | ||
| XM_011511729.1:c.102531C>A (TTN) | XP_011510031.1:p.Asp34177Glu | |
| XM_011511730.1:c.76425C>A (TTN) | XP_011510032.1:p.Asp25475Glu | |
| XM_011511731.1:c.76284C>A (TTN) | XP_011510033.1:p.Asp25428Glu | |
| XM_017004819.1:c.102327C>A (TTN) | XP_016860308.1:p.Asp34109Glu | |
| XM_017004820.1:c.97725C>A (TTN) | XP_016860309.1:p.Asp32575Glu | |
| XM_017004821.1:c.97722C>A (TTN) | XP_016860310.1:p.Asp32574Glu | |
| XM_017004822.1:c.94764C>A (TTN) | XP_016860311.1:p.Asp31588Glu | |
| XM_017004823.1:c.76380C>A (TTN) | XP_016860312.1:p.Asp25460Glu | |
| XM_024453094.1:c.97875C>A (TTN) | XP_024308862.1:p.Asp32625Glu | |
| XM_024453095.1:c.97872C>A (TTN) | XP_024308863.1:p.Asp32624Glu | |
| XM_024453096.1:c.97305C>A (TTN) | XP_024308864.1:p.Asp32435Glu | |
| XM_024453097.1:c.94647C>A (TTN) | XP_024308865.1:p.Asp31549Glu | |
| XM_024453098.1:c.94566C>A (TTN) | XP_024308866.1:p.Asp31522Glu | |
| XM_024453099.1:c.76329C>A (TTN) | XP_024308867.1:p.Asp25443Glu | |
| XM_024453100.1:c.66183C>A (TTN) | XP_024308868.1:p.Asp22061Glu |