Linked Data
dbSNP Id:
rs1277957429
gnomAD v2:
2-179408018-A-T
gnomAD v3:
2-178543291-A-T
gnomAD v4:
2-178543291-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543291A>T , CM000664.2:g.178543291A>T | GRCh38 |
| NC_000002.11:g.179408018A>T , CM000664.1:g.179408018A>T | GRCh37 |
| NC_000002.10:g.179116264A>T | NCBI36 |
| NG_011618.3:g.292512T>A , LRG_391:g.292512T>A | |
| NG_051363.1:g.25465A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88978T>A (TTN) | ENSP00000343764.6:p.Tyr29660Asn | |
| ENST00000342175.11:c.70063T>A (TTN) | ENSP00000340554.6:p.Tyr23355Asn | |
| ENST00000359218.10:c.69862T>A (TTN) | ENSP00000352154.5:p.Tyr23288Asn | |
| ENST00000342175.10:c.70063T>A (TTN) | ENSP00000340554.6:p.Tyr23355Asn | |
| ENST00000342992.10:c.88978T>A (TTN) | ENSP00000343764.6:p.Tyr29660Asn | |
| ENST00000359218.9:c.69862T>A (TTN) | ENSP00000352154.5:p.Tyr23288Asn | |
| ENST00000460472.6:c.69487T>A (TTN) | ENSP00000434586.1:p.Tyr23163Asn | |
| ENST00000589042.5:c.96682T>A (TTN) MANE Select | ENSP00000467141.1:p.Tyr32228Asn | |
| ENST00000591111.5:c.91759T>A (TTN) | ENSP00000465570.1:p.Tyr30587Asn | |
| ENST00000615779.4:c.91759T>A (TTN) | ENSP00000483597.1:p.Tyr30587Asn | |
| NM_001256850.1:c.91759T>A (TTN) | NP_001243779.1:p.Tyr30587Asn | |
| NM_001267550.2:c.96682T>A (TTN) MANE Select | NP_001254479.2:p.Tyr32228Asn | |
| NM_003319.4:c.69487T>A (TTN) | NP_003310.4:p.Tyr23163Asn | |
| NM_133378.4:c.88978T>A (TTN) | NP_596869.4:p.Tyr29660Asn | |
| NM_133432.3:c.69862T>A (TTN) | NP_597676.3:p.Tyr23288Asn | |
| NM_133437.4:c.70063T>A (TTN) | NP_597681.4:p.Tyr23355Asn | |
| NR_038271.1:n.446+19655A>T (TTN-AS1) | ||
| NR_038272.1:n.2043+930A>T (TTN-AS1) | ||
| XM_011511729.1:c.95779T>A (TTN) | XP_011510031.1:p.Tyr31927Asn | |
| XM_011511730.1:c.69673T>A (TTN) | XP_011510032.1:p.Tyr23225Asn | |
| XM_011511731.1:c.69532T>A (TTN) | XP_011510033.1:p.Tyr23178Asn | |
| XM_017004819.1:c.95575T>A (TTN) | XP_016860308.1:p.Tyr31859Asn | |
| XM_017004820.1:c.90973T>A (TTN) | XP_016860309.1:p.Tyr30325Asn | |
| XM_017004821.1:c.90970T>A (TTN) | XP_016860310.1:p.Tyr30324Asn | |
| XM_017004822.1:c.88012T>A (TTN) | XP_016860311.1:p.Tyr29338Asn | |
| XM_017004823.1:c.69628T>A (TTN) | XP_016860312.1:p.Tyr23210Asn | |
| XM_024453094.1:c.91123T>A (TTN) | XP_024308862.1:p.Tyr30375Asn | |
| XM_024453095.1:c.91120T>A (TTN) | XP_024308863.1:p.Tyr30374Asn | |
| XM_024453096.1:c.90553T>A (TTN) | XP_024308864.1:p.Tyr30185Asn | |
| XM_024453097.1:c.87895T>A (TTN) | XP_024308865.1:p.Tyr29299Asn | |
| XM_024453098.1:c.87814T>A (TTN) | XP_024308866.1:p.Tyr29272Asn | |
| XM_024453099.1:c.69577T>A (TTN) | XP_024308867.1:p.Tyr23193Asn | |
| XM_024453100.1:c.59431T>A (TTN) | XP_024308868.1:p.Tyr19811Asn |