Linked Data
ClinVar Variation Id:
165851
dbSNP Id:
rs727503564
ExAC:
2:179439251 C / T
gnomAD v2:
2-179439251-C-T
gnomAD v3:
2-178574524-C-T
gnomAD v4:
2-178574524-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574524C>T , CM000664.2:g.178574524C>T | GRCh38 |
| NC_000002.11:g.179439251C>T , CM000664.1:g.179439251C>T | GRCh37 |
| NC_000002.10:g.179147497C>T | NCBI36 |
| NG_011618.3:g.261279G>A , LRG_391:g.261279G>A | |
| NG_051363.1:g.56698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63904G>A (TTN) | ENSP00000343764.6:p.Gly21302Ser | |
| ENST00000342175.11:c.44989G>A (TTN) | ENSP00000340554.6:p.Gly14997Ser | |
| ENST00000359218.10:c.44788G>A (TTN) | ENSP00000352154.5:p.Gly14930Ser | |
| ENST00000342175.10:c.44989G>A (TTN) | ENSP00000340554.6:p.Gly14997Ser | |
| ENST00000342992.10:c.63904G>A (TTN) | ENSP00000343764.6:p.Gly21302Ser | |
| ENST00000359218.9:c.44788G>A (TTN) | ENSP00000352154.5:p.Gly14930Ser | |
| ENST00000460472.6:c.44413G>A (TTN) | ENSP00000434586.1:p.Gly14805Ser | |
| ENST00000589042.5:c.71608G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly23870Ser | |
| ENST00000591111.5:c.66685G>A (TTN) | ENSP00000465570.1:p.Gly22229Ser | |
| ENST00000615779.4:c.66685G>A (TTN) | ENSP00000483597.1:p.Gly22229Ser | |
| NM_001256850.1:c.66685G>A (TTN) | NP_001243779.1:p.Gly22229Ser | |
| NM_001267550.2:c.71608G>A (TTN) MANE Select | NP_001254479.2:p.Gly23870Ser | |
| NM_003319.4:c.44413G>A (TTN) | NP_003310.4:p.Gly14805Ser | |
| NM_133378.4:c.63904G>A (TTN) | NP_596869.4:p.Gly21302Ser | |
| NM_133432.3:c.44788G>A (TTN) | NP_597676.3:p.Gly14930Ser | |
| NM_133437.4:c.44989G>A (TTN) | NP_597681.4:p.Gly14997Ser | |
| NR_038271.1:n.596+3075C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8048C>T (TTN-AS1) | ||
| XM_011511729.1:c.70705G>A (TTN) | XP_011510031.1:p.Gly23569Ser | |
| XM_011511730.1:c.44599G>A (TTN) | XP_011510032.1:p.Gly14867Ser | |
| XM_011511731.1:c.44458G>A (TTN) | XP_011510033.1:p.Gly14820Ser | |
| XM_017004819.1:c.70501G>A (TTN) | XP_016860308.1:p.Gly23501Ser | |
| XM_017004820.1:c.65899G>A (TTN) | XP_016860309.1:p.Gly21967Ser | |
| XM_017004821.1:c.65896G>A (TTN) | XP_016860310.1:p.Gly21966Ser | |
| XM_017004822.1:c.62938G>A (TTN) | XP_016860311.1:p.Gly20980Ser | |
| XM_017004823.1:c.44554G>A (TTN) | XP_016860312.1:p.Gly14852Ser | |
| XM_024453094.1:c.66049G>A (TTN) | XP_024308862.1:p.Gly22017Ser | |
| XM_024453095.1:c.66046G>A (TTN) | XP_024308863.1:p.Gly22016Ser | |
| XM_024453096.1:c.65479G>A (TTN) | XP_024308864.1:p.Gly21827Ser | |
| XM_024453097.1:c.62821G>A (TTN) | XP_024308865.1:p.Gly20941Ser | |
| XM_024453098.1:c.62740G>A (TTN) | XP_024308866.1:p.Gly20914Ser | |
| XM_024453099.1:c.44503G>A (TTN) | XP_024308867.1:p.Gly14835Ser | |
| XM_024453100.1:c.34357G>A (TTN) | XP_024308868.1:p.Gly11453Ser |