Linked Data
ClinVar Variation Id:
242530
dbSNP Id:
rs565675340
ExAC:
2:179393524 G / A
gnomAD v2:
2-179393524-G-A
gnomAD v3:
2-178528797-G-A
gnomAD v4:
2-178528797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528797G>A , CM000664.2:g.178528797G>A | GRCh38 |
| NC_000002.11:g.179393524G>A , CM000664.1:g.179393524G>A | GRCh37 |
| NC_000002.10:g.179101770G>A | NCBI36 |
| NG_011618.3:g.307006C>T , LRG_391:g.307006C>T | |
| NG_051363.1:g.10971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99250C>T (TTN) | ENSP00000343764.6:p.Arg33084Ter | |
| ENST00000342175.11:c.80335C>T (TTN) | ENSP00000340554.6:p.Arg26779Ter | |
| ENST00000359218.10:c.80134C>T (TTN) | ENSP00000352154.5:p.Arg26712Ter | |
| ENST00000342175.10:c.80335C>T (TTN) | ENSP00000340554.6:p.Arg26779Ter | |
| ENST00000342992.10:c.99250C>T (TTN) | ENSP00000343764.6:p.Arg33084Ter | |
| ENST00000359218.9:c.80134C>T (TTN) | ENSP00000352154.5:p.Arg26712Ter | |
| ENST00000460472.6:c.79759C>T (TTN) | ENSP00000434586.1:p.Arg26587Ter | |
| ENST00000589042.5:c.106954C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg35652Ter | |
| ENST00000591111.5:c.102031C>T (TTN) | ENSP00000465570.1:p.Arg34011Ter | |
| ENST00000615779.4:c.102031C>T (TTN) | ENSP00000483597.1:p.Arg34011Ter | |
| NM_001256850.1:c.102031C>T (TTN) | NP_001243779.1:p.Arg34011Ter | |
| NM_001267550.2:c.106954C>T (TTN) MANE Select | NP_001254479.2:p.Arg35652Ter | |
| NM_003319.4:c.79759C>T (TTN) | NP_003310.4:p.Arg26587Ter | |
| NM_133378.4:c.99250C>T (TTN) | NP_596869.4:p.Arg33084Ter | |
| NM_133432.3:c.80134C>T (TTN) | NP_597676.3:p.Arg26712Ter | |
| NM_133437.4:c.80335C>T (TTN) | NP_597681.4:p.Arg26779Ter | |
| NR_038271.1:n.446+5161G>A (TTN-AS1) | ||
| NR_038272.1:n.219+5161G>A (TTN-AS1) | ||
| XM_011511729.1:c.106051C>T (TTN) | XP_011510031.1:p.Arg35351Ter | |
| XM_011511730.1:c.79945C>T (TTN) | XP_011510032.1:p.Arg26649Ter | |
| XM_011511731.1:c.79804C>T (TTN) | XP_011510033.1:p.Arg26602Ter | |
| XM_017004819.1:c.105847C>T (TTN) | XP_016860308.1:p.Arg35283Ter | |
| XM_017004820.1:c.101245C>T (TTN) | XP_016860309.1:p.Arg33749Ter | |
| XM_017004821.1:c.101242C>T (TTN) | XP_016860310.1:p.Arg33748Ter | |
| XM_017004822.1:c.98284C>T (TTN) | XP_016860311.1:p.Arg32762Ter | |
| XM_017004823.1:c.79900C>T (TTN) | XP_016860312.1:p.Arg26634Ter | |
| XM_024453094.1:c.101395C>T (TTN) | XP_024308862.1:p.Arg33799Ter | |
| XM_024453095.1:c.101392C>T (TTN) | XP_024308863.1:p.Arg33798Ter | |
| XM_024453096.1:c.100825C>T (TTN) | XP_024308864.1:p.Arg33609Ter | |
| XM_024453097.1:c.98167C>T (TTN) | XP_024308865.1:p.Arg32723Ter | |
| XM_024453098.1:c.98086C>T (TTN) | XP_024308866.1:p.Arg32696Ter | |
| XM_024453099.1:c.79849C>T (TTN) | XP_024308867.1:p.Arg26617Ter | |
| XM_024453100.1:c.69703C>T (TTN) | XP_024308868.1:p.Arg23235Ter |