Linked Data
dbSNP Id:
rs770663539
ExAC:
2:179408666 A / G
gnomAD v2:
2-179408666-A-G
gnomAD v3:
2-178543939-A-G
gnomAD v4:
2-178543939-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543939A>G , CM000664.2:g.178543939A>G | GRCh38 |
| NC_000002.11:g.179408666A>G , CM000664.1:g.179408666A>G | GRCh37 |
| NC_000002.10:g.179116912A>G | NCBI36 |
| NG_011618.3:g.291864T>C , LRG_391:g.291864T>C | |
| NG_051363.1:g.26113A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88501T>C (TTN) | ENSP00000343764.6:p.Leu29501= | |
| ENST00000342175.11:c.69586T>C (TTN) | ENSP00000340554.6:p.Leu23196= | |
| ENST00000359218.10:c.69385T>C (TTN) | ENSP00000352154.5:p.Leu23129= | |
| ENST00000342175.10:c.69586T>C (TTN) | ENSP00000340554.6:p.Leu23196= | |
| ENST00000342992.10:c.88501T>C (TTN) | ENSP00000343764.6:p.Leu29501= | |
| ENST00000359218.9:c.69385T>C (TTN) | ENSP00000352154.5:p.Leu23129= | |
| ENST00000460472.6:c.69010T>C (TTN) | ENSP00000434586.1:p.Leu23004= | |
| ENST00000589042.5:c.96205T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu32069= | |
| ENST00000591111.5:c.91282T>C (TTN) | ENSP00000465570.1:p.Leu30428= | |
| ENST00000615779.4:c.91282T>C (TTN) | ENSP00000483597.1:p.Leu30428= | |
| NM_001256850.1:c.91282T>C (TTN) | NP_001243779.1:p.Leu30428= | |
| NM_001267550.2:c.96205T>C (TTN) MANE Select | NP_001254479.2:p.Leu32069= | |
| NM_003319.4:c.69010T>C (TTN) | NP_003310.4:p.Leu23004= | |
| NM_133378.4:c.88501T>C (TTN) | NP_596869.4:p.Leu29501= | |
| NM_133432.3:c.69385T>C (TTN) | NP_597676.3:p.Leu23129= | |
| NM_133437.4:c.69586T>C (TTN) | NP_597681.4:p.Leu23196= | |
| NR_038271.1:n.446+20303A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+1578A>G (TTN-AS1) | ||
| XM_011511729.1:c.95302T>C (TTN) | XP_011510031.1:p.Leu31768= | |
| XM_011511730.1:c.69196T>C (TTN) | XP_011510032.1:p.Leu23066= | |
| XM_011511731.1:c.69055T>C (TTN) | XP_011510033.1:p.Leu23019= | |
| XM_017004819.1:c.95098T>C (TTN) | XP_016860308.1:p.Leu31700= | |
| XM_017004820.1:c.90496T>C (TTN) | XP_016860309.1:p.Leu30166= | |
| XM_017004821.1:c.90493T>C (TTN) | XP_016860310.1:p.Leu30165= | |
| XM_017004822.1:c.87535T>C (TTN) | XP_016860311.1:p.Leu29179= | |
| XM_017004823.1:c.69151T>C (TTN) | XP_016860312.1:p.Leu23051= | |
| XM_024453094.1:c.90646T>C (TTN) | XP_024308862.1:p.Leu30216= | |
| XM_024453095.1:c.90643T>C (TTN) | XP_024308863.1:p.Leu30215= | |
| XM_024453096.1:c.90076T>C (TTN) | XP_024308864.1:p.Leu30026= | |
| XM_024453097.1:c.87418T>C (TTN) | XP_024308865.1:p.Leu29140= | |
| XM_024453098.1:c.87337T>C (TTN) | XP_024308866.1:p.Leu29113= | |
| XM_024453099.1:c.69100T>C (TTN) | XP_024308867.1:p.Leu23034= | |
| XM_024453100.1:c.58954T>C (TTN) | XP_024308868.1:p.Leu19652= |