Linked Data
ClinVar Variation Id:
2437664
ClinVar RCV Id:
RCV003143167
dbSNP Id:
rs747482573
ExAC:
2:179414569 A / G
gnomAD v2:
2-179414569-A-G
gnomAD v4:
2-178549842-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549842A>G , CM000664.2:g.178549842A>G | GRCh38 |
| NC_000002.11:g.179414569A>G , CM000664.1:g.179414569A>G | GRCh37 |
| NC_000002.10:g.179122815A>G | NCBI36 |
| NG_011618.3:g.285961T>C , LRG_391:g.285961T>C | |
| NG_051363.1:g.32016A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84176T>C (TTN) | ENSP00000343764.6:p.Ile28059Thr | |
| ENST00000342175.11:c.65261T>C (TTN) | ENSP00000340554.6:p.Ile21754Thr | |
| ENST00000359218.10:c.65060T>C (TTN) | ENSP00000352154.5:p.Ile21687Thr | |
| ENST00000342175.10:c.65261T>C (TTN) | ENSP00000340554.6:p.Ile21754Thr | |
| ENST00000342992.10:c.84176T>C (TTN) | ENSP00000343764.6:p.Ile28059Thr | |
| ENST00000359218.9:c.65060T>C (TTN) | ENSP00000352154.5:p.Ile21687Thr | |
| ENST00000460472.6:c.64685T>C (TTN) | ENSP00000434586.1:p.Ile21562Thr | |
| ENST00000589042.5:c.91880T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile30627Thr | |
| ENST00000591111.5:c.86957T>C (TTN) | ENSP00000465570.1:p.Ile28986Thr | |
| ENST00000615779.4:c.86957T>C (TTN) | ENSP00000483597.1:p.Ile28986Thr | |
| NM_001256850.1:c.86957T>C (TTN) | NP_001243779.1:p.Ile28986Thr | |
| NM_001267550.2:c.91880T>C (TTN) MANE Select | NP_001254479.2:p.Ile30627Thr | |
| NM_003319.4:c.64685T>C (TTN) | NP_003310.4:p.Ile21562Thr | |
| NM_133378.4:c.84176T>C (TTN) | NP_596869.4:p.Ile28059Thr | |
| NM_133432.3:c.65060T>C (TTN) | NP_597676.3:p.Ile21687Thr | |
| NM_133437.4:c.65261T>C (TTN) | NP_597681.4:p.Ile21754Thr | |
| NR_038271.1:n.447-21458A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+7481A>G (TTN-AS1) | ||
| XM_011511729.1:c.90977T>C (TTN) | XP_011510031.1:p.Ile30326Thr | |
| XM_011511730.1:c.64871T>C (TTN) | XP_011510032.1:p.Ile21624Thr | |
| XM_011511731.1:c.64730T>C (TTN) | XP_011510033.1:p.Ile21577Thr | |
| XM_017004819.1:c.90773T>C (TTN) | XP_016860308.1:p.Ile30258Thr | |
| XM_017004820.1:c.86171T>C (TTN) | XP_016860309.1:p.Ile28724Thr | |
| XM_017004821.1:c.86168T>C (TTN) | XP_016860310.1:p.Ile28723Thr | |
| XM_017004822.1:c.83210T>C (TTN) | XP_016860311.1:p.Ile27737Thr | |
| XM_017004823.1:c.64826T>C (TTN) | XP_016860312.1:p.Ile21609Thr | |
| XM_024453094.1:c.86321T>C (TTN) | XP_024308862.1:p.Ile28774Thr | |
| XM_024453095.1:c.86318T>C (TTN) | XP_024308863.1:p.Ile28773Thr | |
| XM_024453096.1:c.85751T>C (TTN) | XP_024308864.1:p.Ile28584Thr | |
| XM_024453097.1:c.83093T>C (TTN) | XP_024308865.1:p.Ile27698Thr | |
| XM_024453098.1:c.83012T>C (TTN) | XP_024308866.1:p.Ile27671Thr | |
| XM_024453099.1:c.64775T>C (TTN) | XP_024308867.1:p.Ile21592Thr | |
| XM_024453100.1:c.54629T>C (TTN) | XP_024308868.1:p.Ile18210Thr |