Linked Data
ClinVar Variation Id:
202405
dbSNP Id:
rs794729285
gnomAD v2:
2-179436521-G-A
gnomAD v4:
2-178571794-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571794G>A , CM000664.2:g.178571794G>A | GRCh38 |
| NC_000002.11:g.179436521G>A , CM000664.1:g.179436521G>A | GRCh37 |
| NC_000002.10:g.179144767G>A | NCBI36 |
| NG_011618.3:g.264009C>T , LRG_391:g.264009C>T | |
| NG_051363.1:g.53968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66634C>T (TTN) | ENSP00000343764.6:p.Arg22212Ter | |
| ENST00000342175.11:c.47719C>T (TTN) | ENSP00000340554.6:p.Arg15907Ter | |
| ENST00000359218.10:c.47518C>T (TTN) | ENSP00000352154.5:p.Arg15840Ter | |
| ENST00000342175.10:c.47719C>T (TTN) | ENSP00000340554.6:p.Arg15907Ter | |
| ENST00000342992.10:c.66634C>T (TTN) | ENSP00000343764.6:p.Arg22212Ter | |
| ENST00000359218.9:c.47518C>T (TTN) | ENSP00000352154.5:p.Arg15840Ter | |
| ENST00000460472.6:c.47143C>T (TTN) | ENSP00000434586.1:p.Arg15715Ter | |
| ENST00000589042.5:c.74338C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg24780Ter | |
| ENST00000591111.5:c.69415C>T (TTN) | ENSP00000465570.1:p.Arg23139Ter | |
| ENST00000615779.4:c.69415C>T (TTN) | ENSP00000483597.1:p.Arg23139Ter | |
| NM_001256850.1:c.69415C>T (TTN) | NP_001243779.1:p.Arg23139Ter | |
| NM_001267550.2:c.74338C>T (TTN) MANE Select | NP_001254479.2:p.Arg24780Ter | |
| NM_003319.4:c.47143C>T (TTN) | NP_003310.4:p.Arg15715Ter | |
| NM_133378.4:c.66634C>T (TTN) | NP_596869.4:p.Arg22212Ter | |
| NM_133432.3:c.47518C>T (TTN) | NP_597676.3:p.Arg15840Ter | |
| NM_133437.4:c.47719C>T (TTN) | NP_597681.4:p.Arg15907Ter | |
| NR_038271.1:n.596+345G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-10778G>A (TTN-AS1) | ||
| XM_011511729.1:c.73435C>T (TTN) | XP_011510031.1:p.Arg24479Ter | |
| XM_011511730.1:c.47329C>T (TTN) | XP_011510032.1:p.Arg15777Ter | |
| XM_011511731.1:c.47188C>T (TTN) | XP_011510033.1:p.Arg15730Ter | |
| XM_017004819.1:c.73231C>T (TTN) | XP_016860308.1:p.Arg24411Ter | |
| XM_017004820.1:c.68629C>T (TTN) | XP_016860309.1:p.Arg22877Ter | |
| XM_017004821.1:c.68626C>T (TTN) | XP_016860310.1:p.Arg22876Ter | |
| XM_017004822.1:c.65668C>T (TTN) | XP_016860311.1:p.Arg21890Ter | |
| XM_017004823.1:c.47284C>T (TTN) | XP_016860312.1:p.Arg15762Ter | |
| XM_024453094.1:c.68779C>T (TTN) | XP_024308862.1:p.Arg22927Ter | |
| XM_024453095.1:c.68776C>T (TTN) | XP_024308863.1:p.Arg22926Ter | |
| XM_024453096.1:c.68209C>T (TTN) | XP_024308864.1:p.Arg22737Ter | |
| XM_024453097.1:c.65551C>T (TTN) | XP_024308865.1:p.Arg21851Ter | |
| XM_024453098.1:c.65470C>T (TTN) | XP_024308866.1:p.Arg21824Ter | |
| XM_024453099.1:c.47233C>T (TTN) | XP_024308867.1:p.Arg15745Ter | |
| XM_024453100.1:c.37087C>T (TTN) | XP_024308868.1:p.Arg12363Ter |