Linked Data
ClinVar Variation Id:
332826
dbSNP Id:
rs749167827
ExAC:
2:179458749 G / A
gnomAD v2:
2-179458749-G-A
gnomAD v3:
2-178594022-G-A
gnomAD v4:
2-178594022-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594022G>A , CM000664.2:g.178594022G>A | GRCh38 |
| NC_000002.11:g.179458749G>A , CM000664.1:g.179458749G>A | GRCh37 |
| NC_000002.10:g.179166995G>A | NCBI36 |
| NG_011618.3:g.241781C>T , LRG_391:g.241781C>T | |
| NG_051363.1:g.76196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50667C>T (TTN) | ENSP00000343764.6:p.Tyr16889= | |
| ENST00000342175.11:c.31752C>T (TTN) | ENSP00000340554.6:p.Tyr10584= | |
| ENST00000359218.10:c.31551C>T (TTN) | ENSP00000352154.5:p.Tyr10517= | |
| ENST00000342175.10:c.31752C>T (TTN) | ENSP00000340554.6:p.Tyr10584= | |
| ENST00000342992.10:c.50667C>T (TTN) | ENSP00000343764.6:p.Tyr16889= | |
| ENST00000359218.9:c.31551C>T (TTN) | ENSP00000352154.5:p.Tyr10517= | |
| ENST00000460472.6:c.31176C>T (TTN) | ENSP00000434586.1:p.Tyr10392= | |
| ENST00000589042.5:c.58371C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr19457= | |
| ENST00000591111.5:c.53448C>T (TTN) | ENSP00000465570.1:p.Tyr17816= | |
| ENST00000615779.4:c.53448C>T (TTN) | ENSP00000483597.1:p.Tyr17816= | |
| NM_001256850.1:c.53448C>T (TTN) | NP_001243779.1:p.Tyr17816= | |
| NM_001267550.2:c.58371C>T (TTN) MANE Select | NP_001254479.2:p.Tyr19457= | |
| NM_003319.4:c.31176C>T (TTN) | NP_003310.4:p.Tyr10392= | |
| NM_133378.4:c.50667C>T (TTN) | NP_596869.4:p.Tyr16889= | |
| NM_133432.3:c.31551C>T (TTN) | NP_597676.3:p.Tyr10517= | |
| NM_133437.4:c.31752C>T (TTN) | NP_597681.4:p.Tyr10584= | |
| NR_038271.1:n.597-3574G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+2708G>A (TTN-AS1) | ||
| XM_011511729.1:c.57468C>T (TTN) | XP_011510031.1:p.Tyr19156= | |
| XM_011511730.1:c.31362C>T (TTN) | XP_011510032.1:p.Tyr10454= | |
| XM_011511731.1:c.31221C>T (TTN) | XP_011510033.1:p.Tyr10407= | |
| XM_017004819.1:c.57264C>T (TTN) | XP_016860308.1:p.Tyr19088= | |
| XM_017004820.1:c.52662C>T (TTN) | XP_016860309.1:p.Tyr17554= | |
| XM_017004821.1:c.52659C>T (TTN) | XP_016860310.1:p.Tyr17553= | |
| XM_017004822.1:c.49701C>T (TTN) | XP_016860311.1:p.Tyr16567= | |
| XM_017004823.1:c.31317C>T (TTN) | XP_016860312.1:p.Tyr10439= | |
| XM_024453094.1:c.52812C>T (TTN) | XP_024308862.1:p.Tyr17604= | |
| XM_024453095.1:c.52809C>T (TTN) | XP_024308863.1:p.Tyr17603= | |
| XM_024453096.1:c.52242C>T (TTN) | XP_024308864.1:p.Tyr17414= | |
| XM_024453097.1:c.49584C>T (TTN) | XP_024308865.1:p.Tyr16528= | |
| XM_024453098.1:c.49503C>T (TTN) | XP_024308866.1:p.Tyr16501= | |
| XM_024453099.1:c.31266C>T (TTN) | XP_024308867.1:p.Tyr10422= | |
| XM_024453100.1:c.21120C>T (TTN) | XP_024308868.1:p.Tyr7040= |