Linked Data
ClinVar Variation Id:
488396
dbSNP Id:
rs1213930919
gnomAD v2:
2-179442512-G-A
gnomAD v4:
2-178577785-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577785G>A , CM000664.2:g.178577785G>A | GRCh38 |
| NC_000002.11:g.179442512G>A , CM000664.1:g.179442512G>A | GRCh37 |
| NC_000002.10:g.179150758G>A | NCBI36 |
| NG_011618.3:g.258018C>T , LRG_391:g.258018C>T | |
| NG_051363.1:g.59959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60937C>T (TTN) | ENSP00000343764.6:p.Arg20313Ter | |
| ENST00000342175.11:c.42022C>T (TTN) | ENSP00000340554.6:p.Arg14008Ter | |
| ENST00000359218.10:c.41821C>T (TTN) | ENSP00000352154.5:p.Arg13941Ter | |
| ENST00000342175.10:c.42022C>T (TTN) | ENSP00000340554.6:p.Arg14008Ter | |
| ENST00000342992.10:c.60937C>T (TTN) | ENSP00000343764.6:p.Arg20313Ter | |
| ENST00000359218.9:c.41821C>T (TTN) | ENSP00000352154.5:p.Arg13941Ter | |
| ENST00000460472.6:c.41446C>T (TTN) | ENSP00000434586.1:p.Arg13816Ter | |
| ENST00000589042.5:c.68641C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg22881Ter | |
| ENST00000591111.5:c.63718C>T (TTN) | ENSP00000465570.1:p.Arg21240Ter | |
| ENST00000615779.4:c.63718C>T (TTN) | ENSP00000483597.1:p.Arg21240Ter | |
| NM_001256850.1:c.63718C>T (TTN) | NP_001243779.1:p.Arg21240Ter | |
| NM_001267550.2:c.68641C>T (TTN) MANE Select | NP_001254479.2:p.Arg22881Ter | |
| NM_003319.4:c.41446C>T (TTN) | NP_003310.4:p.Arg13816Ter | |
| NM_133378.4:c.60937C>T (TTN) | NP_596869.4:p.Arg20313Ter | |
| NM_133432.3:c.41821C>T (TTN) | NP_597676.3:p.Arg13941Ter | |
| NM_133437.4:c.42022C>T (TTN) | NP_597681.4:p.Arg14008Ter | |
| NR_038271.1:n.596+6336G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-4787G>A (TTN-AS1) | ||
| XM_011511729.1:c.67738C>T (TTN) | XP_011510031.1:p.Arg22580Ter | |
| XM_011511730.1:c.41632C>T (TTN) | XP_011510032.1:p.Arg13878Ter | |
| XM_011511731.1:c.41491C>T (TTN) | XP_011510033.1:p.Arg13831Ter | |
| XM_017004819.1:c.67534C>T (TTN) | XP_016860308.1:p.Arg22512Ter | |
| XM_017004820.1:c.62932C>T (TTN) | XP_016860309.1:p.Arg20978Ter | |
| XM_017004821.1:c.62929C>T (TTN) | XP_016860310.1:p.Arg20977Ter | |
| XM_017004822.1:c.59971C>T (TTN) | XP_016860311.1:p.Arg19991Ter | |
| XM_017004823.1:c.41587C>T (TTN) | XP_016860312.1:p.Arg13863Ter | |
| XM_024453094.1:c.63082C>T (TTN) | XP_024308862.1:p.Arg21028Ter | |
| XM_024453095.1:c.63079C>T (TTN) | XP_024308863.1:p.Arg21027Ter | |
| XM_024453096.1:c.62512C>T (TTN) | XP_024308864.1:p.Arg20838Ter | |
| XM_024453097.1:c.59854C>T (TTN) | XP_024308865.1:p.Arg19952Ter | |
| XM_024453098.1:c.59773C>T (TTN) | XP_024308866.1:p.Arg19925Ter | |
| XM_024453099.1:c.41536C>T (TTN) | XP_024308867.1:p.Arg13846Ter | |
| XM_024453100.1:c.31390C>T (TTN) | XP_024308868.1:p.Arg10464Ter |