Linked Data
ClinVar Variation Id:
518580
ClinVar RCV Id:
RCV000617373
dbSNP Id:
rs780636599
gnomAD v4:
2-178549824-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549824G>A , CM000664.2:g.178549824G>A | GRCh38 |
| NC_000002.11:g.179414551G>A , CM000664.1:g.179414551G>A | GRCh37 |
| NC_000002.10:g.179122797G>A | NCBI36 |
| NG_011618.3:g.285979C>T , LRG_391:g.285979C>T | |
| NG_051363.1:g.31998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84194C>T (TTN) | ENSP00000343764.6:p.Thr28065Ile | |
| ENST00000342175.11:c.65279C>T (TTN) | ENSP00000340554.6:p.Thr21760Ile | |
| ENST00000359218.10:c.65078C>T (TTN) | ENSP00000352154.5:p.Thr21693Ile | |
| ENST00000342175.10:c.65279C>T (TTN) | ENSP00000340554.6:p.Thr21760Ile | |
| ENST00000342992.10:c.84194C>T (TTN) | ENSP00000343764.6:p.Thr28065Ile | |
| ENST00000359218.9:c.65078C>T (TTN) | ENSP00000352154.5:p.Thr21693Ile | |
| ENST00000460472.6:c.64703C>T (TTN) | ENSP00000434586.1:p.Thr21568Ile | |
| ENST00000589042.5:c.91898C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr30633Ile | |
| ENST00000591111.5:c.86975C>T (TTN) | ENSP00000465570.1:p.Thr28992Ile | |
| ENST00000615779.4:c.86975C>T (TTN) | ENSP00000483597.1:p.Thr28992Ile | |
| NM_001256850.1:c.86975C>T (TTN) | NP_001243779.1:p.Thr28992Ile | |
| NM_001267550.2:c.91898C>T (TTN) MANE Select | NP_001254479.2:p.Thr30633Ile | |
| NM_003319.4:c.64703C>T (TTN) | NP_003310.4:p.Thr21568Ile | |
| NM_133378.4:c.84194C>T (TTN) | NP_596869.4:p.Thr28065Ile | |
| NM_133432.3:c.65078C>T (TTN) | NP_597676.3:p.Thr21693Ile | |
| NM_133437.4:c.65279C>T (TTN) | NP_597681.4:p.Thr21760Ile | |
| NR_038271.1:n.447-21476G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7463G>A (TTN-AS1) | ||
| XM_011511729.1:c.90995C>T (TTN) | XP_011510031.1:p.Thr30332Ile | |
| XM_011511730.1:c.64889C>T (TTN) | XP_011510032.1:p.Thr21630Ile | |
| XM_011511731.1:c.64748C>T (TTN) | XP_011510033.1:p.Thr21583Ile | |
| XM_017004819.1:c.90791C>T (TTN) | XP_016860308.1:p.Thr30264Ile | |
| XM_017004820.1:c.86189C>T (TTN) | XP_016860309.1:p.Thr28730Ile | |
| XM_017004821.1:c.86186C>T (TTN) | XP_016860310.1:p.Thr28729Ile | |
| XM_017004822.1:c.83228C>T (TTN) | XP_016860311.1:p.Thr27743Ile | |
| XM_017004823.1:c.64844C>T (TTN) | XP_016860312.1:p.Thr21615Ile | |
| XM_024453094.1:c.86339C>T (TTN) | XP_024308862.1:p.Thr28780Ile | |
| XM_024453095.1:c.86336C>T (TTN) | XP_024308863.1:p.Thr28779Ile | |
| XM_024453096.1:c.85769C>T (TTN) | XP_024308864.1:p.Thr28590Ile | |
| XM_024453097.1:c.83111C>T (TTN) | XP_024308865.1:p.Thr27704Ile | |
| XM_024453098.1:c.83030C>T (TTN) | XP_024308866.1:p.Thr27677Ile | |
| XM_024453099.1:c.64793C>T (TTN) | XP_024308867.1:p.Thr21598Ile | |
| XM_024453100.1:c.54647C>T (TTN) | XP_024308868.1:p.Thr18216Ile |