Linked Data
ClinVar Variation Id:
202813
dbSNP Id:
rs185620750
ExAC:
2:179444051 C / T
gnomAD v2:
2-179444051-C-T
gnomAD v3:
2-178579324-C-T
gnomAD v4:
2-178579324-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579324C>T , CM000664.2:g.178579324C>T | GRCh38 |
| NC_000002.11:g.179444051C>T , CM000664.1:g.179444051C>T | GRCh37 |
| NC_000002.10:g.179152297C>T | NCBI36 |
| NG_011618.3:g.256479G>A , LRG_391:g.256479G>A | |
| NG_051363.1:g.61498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60002G>A (TTN) | ENSP00000343764.6:p.Arg20001Gln | |
| ENST00000342175.11:c.41087G>A (TTN) | ENSP00000340554.6:p.Arg13696Gln | |
| ENST00000359218.10:c.40886G>A (TTN) | ENSP00000352154.5:p.Arg13629Gln | |
| ENST00000342175.10:c.41087G>A (TTN) | ENSP00000340554.6:p.Arg13696Gln | |
| ENST00000342992.10:c.60002G>A (TTN) | ENSP00000343764.6:p.Arg20001Gln | |
| ENST00000359218.9:c.40886G>A (TTN) | ENSP00000352154.5:p.Arg13629Gln | |
| ENST00000460472.6:c.40511G>A (TTN) | ENSP00000434586.1:p.Arg13504Gln | |
| ENST00000589042.5:c.67706G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg22569Gln | |
| ENST00000591111.5:c.62783G>A (TTN) | ENSP00000465570.1:p.Arg20928Gln | |
| ENST00000615779.4:c.62783G>A (TTN) | ENSP00000483597.1:p.Arg20928Gln | |
| NM_001256850.1:c.62783G>A (TTN) | NP_001243779.1:p.Arg20928Gln | |
| NM_001267550.2:c.67706G>A (TTN) MANE Select | NP_001254479.2:p.Arg22569Gln | |
| NM_003319.4:c.40511G>A (TTN) | NP_003310.4:p.Arg13504Gln | |
| NM_133378.4:c.60002G>A (TTN) | NP_596869.4:p.Arg20001Gln | |
| NM_133432.3:c.40886G>A (TTN) | NP_597676.3:p.Arg13629Gln | |
| NM_133437.4:c.41087G>A (TTN) | NP_597681.4:p.Arg13696Gln | |
| NR_038271.1:n.596+7875C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-3248C>T (TTN-AS1) | ||
| XM_011511729.1:c.66803G>A (TTN) | XP_011510031.1:p.Arg22268Gln | |
| XM_011511730.1:c.40697G>A (TTN) | XP_011510032.1:p.Arg13566Gln | |
| XM_011511731.1:c.40556G>A (TTN) | XP_011510033.1:p.Arg13519Gln | |
| XM_017004819.1:c.66599G>A (TTN) | XP_016860308.1:p.Arg22200Gln | |
| XM_017004820.1:c.61997G>A (TTN) | XP_016860309.1:p.Arg20666Gln | |
| XM_017004821.1:c.61994G>A (TTN) | XP_016860310.1:p.Arg20665Gln | |
| XM_017004822.1:c.59036G>A (TTN) | XP_016860311.1:p.Arg19679Gln | |
| XM_017004823.1:c.40652G>A (TTN) | XP_016860312.1:p.Arg13551Gln | |
| XM_024453094.1:c.62147G>A (TTN) | XP_024308862.1:p.Arg20716Gln | |
| XM_024453095.1:c.62144G>A (TTN) | XP_024308863.1:p.Arg20715Gln | |
| XM_024453096.1:c.61577G>A (TTN) | XP_024308864.1:p.Arg20526Gln | |
| XM_024453097.1:c.58919G>A (TTN) | XP_024308865.1:p.Arg19640Gln | |
| XM_024453098.1:c.58838G>A (TTN) | XP_024308866.1:p.Arg19613Gln | |
| XM_024453099.1:c.40601G>A (TTN) | XP_024308867.1:p.Arg13534Gln | |
| XM_024453100.1:c.30455G>A (TTN) | XP_024308868.1:p.Arg10152Gln |