Linked Data
dbSNP Id:
rs773091136
ExAC:
2:179395047 G / T
gnomAD v2:
2-179395047-G-T
gnomAD v4:
2-178530320-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530320G>T , CM000664.2:g.178530320G>T | GRCh38 |
| NC_000002.11:g.179395047G>T , CM000664.1:g.179395047G>T | GRCh37 |
| NC_000002.10:g.179103293G>T | NCBI36 |
| NG_011618.3:g.305483C>A , LRG_391:g.305483C>A | |
| NG_051363.1:g.12494G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98591C>A (TTN) | ENSP00000343764.6:p.Ser32864Tyr | |
| ENST00000342175.11:c.79676C>A (TTN) | ENSP00000340554.6:p.Ser26559Tyr | |
| ENST00000359218.10:c.79475C>A (TTN) | ENSP00000352154.5:p.Ser26492Tyr | |
| ENST00000342175.10:c.79676C>A (TTN) | ENSP00000340554.6:p.Ser26559Tyr | |
| ENST00000342992.10:c.98591C>A (TTN) | ENSP00000343764.6:p.Ser32864Tyr | |
| ENST00000359218.9:c.79475C>A (TTN) | ENSP00000352154.5:p.Ser26492Tyr | |
| ENST00000460472.6:c.79100C>A (TTN) | ENSP00000434586.1:p.Ser26367Tyr | |
| ENST00000589042.5:c.106295C>A (TTN) MANE Select | ENSP00000467141.1:p.Ser35432Tyr | |
| ENST00000591111.5:c.101372C>A (TTN) | ENSP00000465570.1:p.Ser33791Tyr | |
| ENST00000615779.4:c.101372C>A (TTN) | ENSP00000483597.1:p.Ser33791Tyr | |
| NM_001256850.1:c.101372C>A (TTN) | NP_001243779.1:p.Ser33791Tyr | |
| NM_001267550.2:c.106295C>A (TTN) MANE Select | NP_001254479.2:p.Ser35432Tyr | |
| NM_003319.4:c.79100C>A (TTN) | NP_003310.4:p.Ser26367Tyr | |
| NM_133378.4:c.98591C>A (TTN) | NP_596869.4:p.Ser32864Tyr | |
| NM_133432.3:c.79475C>A (TTN) | NP_597676.3:p.Ser26492Tyr | |
| NM_133437.4:c.79676C>A (TTN) | NP_597681.4:p.Ser26559Tyr | |
| NR_038271.1:n.446+6684G>T (TTN-AS1) | ||
| NR_038272.1:n.220-5412G>T (TTN-AS1) | ||
| XM_011511729.1:c.105392C>A (TTN) | XP_011510031.1:p.Ser35131Tyr | |
| XM_011511730.1:c.79286C>A (TTN) | XP_011510032.1:p.Ser26429Tyr | |
| XM_011511731.1:c.79145C>A (TTN) | XP_011510033.1:p.Ser26382Tyr | |
| XM_017004819.1:c.105188C>A (TTN) | XP_016860308.1:p.Ser35063Tyr | |
| XM_017004820.1:c.100586C>A (TTN) | XP_016860309.1:p.Ser33529Tyr | |
| XM_017004821.1:c.100583C>A (TTN) | XP_016860310.1:p.Ser33528Tyr | |
| XM_017004822.1:c.97625C>A (TTN) | XP_016860311.1:p.Ser32542Tyr | |
| XM_017004823.1:c.79241C>A (TTN) | XP_016860312.1:p.Ser26414Tyr | |
| XM_024453094.1:c.100736C>A (TTN) | XP_024308862.1:p.Ser33579Tyr | |
| XM_024453095.1:c.100733C>A (TTN) | XP_024308863.1:p.Ser33578Tyr | |
| XM_024453096.1:c.100166C>A (TTN) | XP_024308864.1:p.Ser33389Tyr | |
| XM_024453097.1:c.97508C>A (TTN) | XP_024308865.1:p.Ser32503Tyr | |
| XM_024453098.1:c.97427C>A (TTN) | XP_024308866.1:p.Ser32476Tyr | |
| XM_024453099.1:c.79190C>A (TTN) | XP_024308867.1:p.Ser26397Tyr | |
| XM_024453100.1:c.69044C>A (TTN) | XP_024308868.1:p.Ser23015Tyr |