Linked Data
ClinVar Variation Id:
179190
dbSNP Id:
rs727504698
ExAC:
2:179401789 T / G
gnomAD v2:
2-179401789-T-G
gnomAD v3:
2-178537062-T-G
gnomAD v4:
2-178537062-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537062T>G , CM000664.2:g.178537062T>G | GRCh38 |
| NC_000002.11:g.179401789T>G , CM000664.1:g.179401789T>G | GRCh37 |
| NC_000002.10:g.179110035T>G | NCBI36 |
| NG_011618.3:g.298741A>C , LRG_391:g.298741A>C | |
| NG_051363.1:g.19236T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92343A>C (TTN) | ENSP00000343764.6:p.Thr30781= | |
| ENST00000342175.11:c.73428A>C (TTN) | ENSP00000340554.6:p.Thr24476= | |
| ENST00000359218.10:c.73227A>C (TTN) | ENSP00000352154.5:p.Thr24409= | |
| ENST00000342175.10:c.73428A>C (TTN) | ENSP00000340554.6:p.Thr24476= | |
| ENST00000342992.10:c.92343A>C (TTN) | ENSP00000343764.6:p.Thr30781= | |
| ENST00000359218.9:c.73227A>C (TTN) | ENSP00000352154.5:p.Thr24409= | |
| ENST00000460472.6:c.72852A>C (TTN) | ENSP00000434586.1:p.Thr24284= | |
| ENST00000589042.5:c.100047A>C (TTN) MANE Select | ENSP00000467141.1:p.Thr33349= | |
| ENST00000591111.5:c.95124A>C (TTN) | ENSP00000465570.1:p.Thr31708= | |
| ENST00000615779.4:c.95124A>C (TTN) | ENSP00000483597.1:p.Thr31708= | |
| NM_001256850.1:c.95124A>C (TTN) | NP_001243779.1:p.Thr31708= | |
| NM_001267550.2:c.100047A>C (TTN) MANE Select | NP_001254479.2:p.Thr33349= | |
| NM_003319.4:c.72852A>C (TTN) | NP_003310.4:p.Thr24284= | |
| NM_133378.4:c.92343A>C (TTN) | NP_596869.4:p.Thr30781= | |
| NM_133432.3:c.73227A>C (TTN) | NP_597676.3:p.Thr24409= | |
| NM_133437.4:c.73428A>C (TTN) | NP_597681.4:p.Thr24476= | |
| NR_038271.1:n.446+13426T>G (TTN-AS1) | ||
| NR_038272.1:n.317-299T>G (TTN-AS1) | ||
| XM_011511729.1:c.99144A>C (TTN) | XP_011510031.1:p.Thr33048= | |
| XM_011511730.1:c.73038A>C (TTN) | XP_011510032.1:p.Thr24346= | |
| XM_011511731.1:c.72897A>C (TTN) | XP_011510033.1:p.Thr24299= | |
| XM_017004819.1:c.98940A>C (TTN) | XP_016860308.1:p.Thr32980= | |
| XM_017004820.1:c.94338A>C (TTN) | XP_016860309.1:p.Thr31446= | |
| XM_017004821.1:c.94335A>C (TTN) | XP_016860310.1:p.Thr31445= | |
| XM_017004822.1:c.91377A>C (TTN) | XP_016860311.1:p.Thr30459= | |
| XM_017004823.1:c.72993A>C (TTN) | XP_016860312.1:p.Thr24331= | |
| XM_024453094.1:c.94488A>C (TTN) | XP_024308862.1:p.Thr31496= | |
| XM_024453095.1:c.94485A>C (TTN) | XP_024308863.1:p.Thr31495= | |
| XM_024453096.1:c.93918A>C (TTN) | XP_024308864.1:p.Thr31306= | |
| XM_024453097.1:c.91260A>C (TTN) | XP_024308865.1:p.Thr30420= | |
| XM_024453098.1:c.91179A>C (TTN) | XP_024308866.1:p.Thr30393= | |
| XM_024453099.1:c.72942A>C (TTN) | XP_024308867.1:p.Thr24314= | |
| XM_024453100.1:c.62796A>C (TTN) | XP_024308868.1:p.Thr20932= |