Linked Data
ClinVar Variation Id:
47616
dbSNP Id:
rs371656672
ExAC:
2:179402594 A / G
gnomAD v2:
2-179402594-A-G
gnomAD v3:
2-178537867-A-G
gnomAD v4:
2-178537867-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537867A>G , CM000664.2:g.178537867A>G | GRCh38 |
| NC_000002.11:g.179402594A>G , CM000664.1:g.179402594A>G | GRCh37 |
| NC_000002.10:g.179110840A>G | NCBI36 |
| NG_011618.3:g.297936T>C , LRG_391:g.297936T>C | |
| NG_051363.1:g.20041A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91636T>C (TTN) | ENSP00000343764.6:p.Leu30546= | |
| ENST00000342175.11:c.72721T>C (TTN) | ENSP00000340554.6:p.Leu24241= | |
| ENST00000359218.10:c.72520T>C (TTN) | ENSP00000352154.5:p.Leu24174= | |
| ENST00000342175.10:c.72721T>C (TTN) | ENSP00000340554.6:p.Leu24241= | |
| ENST00000342992.10:c.91636T>C (TTN) | ENSP00000343764.6:p.Leu30546= | |
| ENST00000359218.9:c.72520T>C (TTN) | ENSP00000352154.5:p.Leu24174= | |
| ENST00000460472.6:c.72145T>C (TTN) | ENSP00000434586.1:p.Leu24049= | |
| ENST00000589042.5:c.99340T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu33114= | |
| ENST00000591111.5:c.94417T>C (TTN) | ENSP00000465570.1:p.Leu31473= | |
| ENST00000615779.4:c.94417T>C (TTN) | ENSP00000483597.1:p.Leu31473= | |
| NM_001256850.1:c.94417T>C (TTN) | NP_001243779.1:p.Leu31473= | |
| NM_001267550.2:c.99340T>C (TTN) MANE Select | NP_001254479.2:p.Leu33114= | |
| NM_003319.4:c.72145T>C (TTN) | NP_003310.4:p.Leu24049= | |
| NM_133378.4:c.91636T>C (TTN) | NP_596869.4:p.Leu30546= | |
| NM_133432.3:c.72520T>C (TTN) | NP_597676.3:p.Leu24174= | |
| NM_133437.4:c.72721T>C (TTN) | NP_597681.4:p.Leu24241= | |
| NR_038271.1:n.446+14231A>G (TTN-AS1) | ||
| NR_038272.1:n.647+176A>G (TTN-AS1) | ||
| XM_011511729.1:c.98437T>C (TTN) | XP_011510031.1:p.Leu32813= | |
| XM_011511730.1:c.72331T>C (TTN) | XP_011510032.1:p.Leu24111= | |
| XM_011511731.1:c.72190T>C (TTN) | XP_011510033.1:p.Leu24064= | |
| XM_017004819.1:c.98233T>C (TTN) | XP_016860308.1:p.Leu32745= | |
| XM_017004820.1:c.93631T>C (TTN) | XP_016860309.1:p.Leu31211= | |
| XM_017004821.1:c.93628T>C (TTN) | XP_016860310.1:p.Leu31210= | |
| XM_017004822.1:c.90670T>C (TTN) | XP_016860311.1:p.Leu30224= | |
| XM_017004823.1:c.72286T>C (TTN) | XP_016860312.1:p.Leu24096= | |
| XM_024453094.1:c.93781T>C (TTN) | XP_024308862.1:p.Leu31261= | |
| XM_024453095.1:c.93778T>C (TTN) | XP_024308863.1:p.Leu31260= | |
| XM_024453096.1:c.93211T>C (TTN) | XP_024308864.1:p.Leu31071= | |
| XM_024453097.1:c.90553T>C (TTN) | XP_024308865.1:p.Leu30185= | |
| XM_024453098.1:c.90472T>C (TTN) | XP_024308866.1:p.Leu30158= | |
| XM_024453099.1:c.72235T>C (TTN) | XP_024308867.1:p.Leu24079= | |
| XM_024453100.1:c.62089T>C (TTN) | XP_024308868.1:p.Leu20697= |