Linked Data
ClinVar Variation Id:
808891
dbSNP Id:
rs879170800
gnomAD v3:
2-178530115-G-A
gnomAD v4:
2-178530115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530115G>A , CM000664.2:g.178530115G>A | GRCh38 |
| NC_000002.11:g.179394842G>A , CM000664.1:g.179394842G>A | GRCh37 |
| NC_000002.10:g.179103088G>A | NCBI36 |
| NG_011618.3:g.305688C>T , LRG_391:g.305688C>T | |
| NG_051363.1:g.12289G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98672C>T (TTN) | ENSP00000343764.6:p.Ala32891Val | |
| ENST00000342175.11:c.79757C>T (TTN) | ENSP00000340554.6:p.Ala26586Val | |
| ENST00000359218.10:c.79556C>T (TTN) | ENSP00000352154.5:p.Ala26519Val | |
| ENST00000342175.10:c.79757C>T (TTN) | ENSP00000340554.6:p.Ala26586Val | |
| ENST00000342992.10:c.98672C>T (TTN) | ENSP00000343764.6:p.Ala32891Val | |
| ENST00000359218.9:c.79556C>T (TTN) | ENSP00000352154.5:p.Ala26519Val | |
| ENST00000460472.6:c.79181C>T (TTN) | ENSP00000434586.1:p.Ala26394Val | |
| ENST00000589042.5:c.106376C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala35459Val | |
| ENST00000591111.5:c.101453C>T (TTN) | ENSP00000465570.1:p.Ala33818Val | |
| ENST00000615779.4:c.101453C>T (TTN) | ENSP00000483597.1:p.Ala33818Val | |
| NM_001256850.1:c.101453C>T (TTN) | NP_001243779.1:p.Ala33818Val | |
| NM_001267550.2:c.106376C>T (TTN) MANE Select | NP_001254479.2:p.Ala35459Val | |
| NM_003319.4:c.79181C>T (TTN) | NP_003310.4:p.Ala26394Val | |
| NM_133378.4:c.98672C>T (TTN) | NP_596869.4:p.Ala32891Val | |
| NM_133432.3:c.79556C>T (TTN) | NP_597676.3:p.Ala26519Val | |
| NM_133437.4:c.79757C>T (TTN) | NP_597681.4:p.Ala26586Val | |
| NR_038271.1:n.446+6479G>A (TTN-AS1) | ||
| NR_038272.1:n.220-5617G>A (TTN-AS1) | ||
| XM_011511729.1:c.105473C>T (TTN) | XP_011510031.1:p.Ala35158Val | |
| XM_011511730.1:c.79367C>T (TTN) | XP_011510032.1:p.Ala26456Val | |
| XM_011511731.1:c.79226C>T (TTN) | XP_011510033.1:p.Ala26409Val | |
| XM_017004819.1:c.105269C>T (TTN) | XP_016860308.1:p.Ala35090Val | |
| XM_017004820.1:c.100667C>T (TTN) | XP_016860309.1:p.Ala33556Val | |
| XM_017004821.1:c.100664C>T (TTN) | XP_016860310.1:p.Ala33555Val | |
| XM_017004822.1:c.97706C>T (TTN) | XP_016860311.1:p.Ala32569Val | |
| XM_017004823.1:c.79322C>T (TTN) | XP_016860312.1:p.Ala26441Val | |
| XM_024453094.1:c.100817C>T (TTN) | XP_024308862.1:p.Ala33606Val | |
| XM_024453095.1:c.100814C>T (TTN) | XP_024308863.1:p.Ala33605Val | |
| XM_024453096.1:c.100247C>T (TTN) | XP_024308864.1:p.Ala33416Val | |
| XM_024453097.1:c.97589C>T (TTN) | XP_024308865.1:p.Ala32530Val | |
| XM_024453098.1:c.97508C>T (TTN) | XP_024308866.1:p.Ala32503Val | |
| XM_024453099.1:c.79271C>T (TTN) | XP_024308867.1:p.Ala26424Val | |
| XM_024453100.1:c.69125C>T (TTN) | XP_024308868.1:p.Ala23042Val |