Linked Data
dbSNP Id:
rs768624965
ExAC:
2:179422539 C / T
gnomAD v2:
2-179422539-C-T
gnomAD v4:
2-178557812-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557812C>T , CM000664.2:g.178557812C>T | GRCh38 |
| NC_000002.11:g.179422539C>T , CM000664.1:g.179422539C>T | GRCh37 |
| NC_000002.10:g.179130785C>T | NCBI36 |
| NG_011618.3:g.277991G>A , LRG_391:g.277991G>A | |
| NG_051363.1:g.39986C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.79838G>A (TTN) | ENSP00000343764.6:p.Ser26613Asn | |
| ENST00000342175.11:c.60923G>A (TTN) | ENSP00000340554.6:p.Ser20308Asn | |
| ENST00000359218.10:c.60722G>A (TTN) | ENSP00000352154.5:p.Ser20241Asn | |
| ENST00000342175.10:c.60923G>A (TTN) | ENSP00000340554.6:p.Ser20308Asn | |
| ENST00000342992.10:c.79838G>A (TTN) | ENSP00000343764.6:p.Ser26613Asn | |
| ENST00000359218.9:c.60722G>A (TTN) | ENSP00000352154.5:p.Ser20241Asn | |
| ENST00000460472.6:c.60347G>A (TTN) | ENSP00000434586.1:p.Ser20116Asn | |
| ENST00000589042.5:c.87542G>A (TTN) MANE Select | ENSP00000467141.1:p.Ser29181Asn | |
| ENST00000591111.5:c.82619G>A (TTN) | ENSP00000465570.1:p.Ser27540Asn | |
| ENST00000615779.4:c.82619G>A (TTN) | ENSP00000483597.1:p.Ser27540Asn | |
| NM_001256850.1:c.82619G>A (TTN) | NP_001243779.1:p.Ser27540Asn | |
| NM_001267550.2:c.87542G>A (TTN) MANE Select | NP_001254479.2:p.Ser29181Asn | |
| NM_003319.4:c.60347G>A (TTN) | NP_003310.4:p.Ser20116Asn | |
| NM_133378.4:c.79838G>A (TTN) | NP_596869.4:p.Ser26613Asn | |
| NM_133432.3:c.60722G>A (TTN) | NP_597676.3:p.Ser20241Asn | |
| NM_133437.4:c.60923G>A (TTN) | NP_597681.4:p.Ser20308Asn | |
| NR_038271.1:n.447-13488C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15451C>T (TTN-AS1) | ||
| XM_011511729.1:c.86639G>A (TTN) | XP_011510031.1:p.Ser28880Asn | |
| XM_011511730.1:c.60533G>A (TTN) | XP_011510032.1:p.Ser20178Asn | |
| XM_011511731.1:c.60392G>A (TTN) | XP_011510033.1:p.Ser20131Asn | |
| XM_017004819.1:c.86435G>A (TTN) | XP_016860308.1:p.Ser28812Asn | |
| XM_017004820.1:c.81833G>A (TTN) | XP_016860309.1:p.Ser27278Asn | |
| XM_017004821.1:c.81830G>A (TTN) | XP_016860310.1:p.Ser27277Asn | |
| XM_017004822.1:c.78872G>A (TTN) | XP_016860311.1:p.Ser26291Asn | |
| XM_017004823.1:c.60488G>A (TTN) | XP_016860312.1:p.Ser20163Asn | |
| XM_024453094.1:c.81983G>A (TTN) | XP_024308862.1:p.Ser27328Asn | |
| XM_024453095.1:c.81980G>A (TTN) | XP_024308863.1:p.Ser27327Asn | |
| XM_024453096.1:c.81413G>A (TTN) | XP_024308864.1:p.Ser27138Asn | |
| XM_024453097.1:c.78755G>A (TTN) | XP_024308865.1:p.Ser26252Asn | |
| XM_024453098.1:c.78674G>A (TTN) | XP_024308866.1:p.Ser26225Asn | |
| XM_024453099.1:c.60437G>A (TTN) | XP_024308867.1:p.Ser20146Asn | |
| XM_024453100.1:c.50291G>A (TTN) | XP_024308868.1:p.Ser16764Asn |