Linked Data
ClinVar Variation Id:
238696
ClinVar RCV Id:
RCV000316931
RCV000374683
RCV000282589
RCV000339796
RCV000388832
RCV000842725
RCV001087206
RCV004532863
dbSNP Id:
rs143499441
ExAC:
2:179395689 A / G
gnomAD v2:
2-179395689-A-G
gnomAD v3:
2-178530962-A-G
gnomAD v4:
2-178530962-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530962A>G , CM000664.2:g.178530962A>G | GRCh38 |
| NC_000002.11:g.179395689A>G , CM000664.1:g.179395689A>G | GRCh37 |
| NC_000002.10:g.179103935A>G | NCBI36 |
| NG_011618.3:g.304841T>C , LRG_391:g.304841T>C | |
| NG_051363.1:g.13136A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97949T>C (TTN) | ENSP00000343764.6:p.Ile32650Thr | |
| ENST00000342175.11:c.79034T>C (TTN) | ENSP00000340554.6:p.Ile26345Thr | |
| ENST00000359218.10:c.78833T>C (TTN) | ENSP00000352154.5:p.Ile26278Thr | |
| ENST00000342175.10:c.79034T>C (TTN) | ENSP00000340554.6:p.Ile26345Thr | |
| ENST00000342992.10:c.97949T>C (TTN) | ENSP00000343764.6:p.Ile32650Thr | |
| ENST00000359218.9:c.78833T>C (TTN) | ENSP00000352154.5:p.Ile26278Thr | |
| ENST00000460472.6:c.78458T>C (TTN) | ENSP00000434586.1:p.Ile26153Thr | |
| ENST00000589042.5:c.105653T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile35218Thr | |
| ENST00000591111.5:c.100730T>C (TTN) | ENSP00000465570.1:p.Ile33577Thr | |
| ENST00000615779.4:c.100730T>C (TTN) | ENSP00000483597.1:p.Ile33577Thr | |
| NM_001256850.1:c.100730T>C (TTN) | NP_001243779.1:p.Ile33577Thr | |
| NM_001267550.2:c.105653T>C (TTN) MANE Select | NP_001254479.2:p.Ile35218Thr | |
| NM_003319.4:c.78458T>C (TTN) | NP_003310.4:p.Ile26153Thr | |
| NM_133378.4:c.97949T>C (TTN) | NP_596869.4:p.Ile32650Thr | |
| NM_133432.3:c.78833T>C (TTN) | NP_597676.3:p.Ile26278Thr | |
| NM_133437.4:c.79034T>C (TTN) | NP_597681.4:p.Ile26345Thr | |
| NR_038271.1:n.446+7326A>G (TTN-AS1) | ||
| NR_038272.1:n.220-4770A>G (TTN-AS1) | ||
| XM_011511729.1:c.104750T>C (TTN) | XP_011510031.1:p.Ile34917Thr | |
| XM_011511730.1:c.78644T>C (TTN) | XP_011510032.1:p.Ile26215Thr | |
| XM_011511731.1:c.78503T>C (TTN) | XP_011510033.1:p.Ile26168Thr | |
| XM_017004819.1:c.104546T>C (TTN) | XP_016860308.1:p.Ile34849Thr | |
| XM_017004820.1:c.99944T>C (TTN) | XP_016860309.1:p.Ile33315Thr | |
| XM_017004821.1:c.99941T>C (TTN) | XP_016860310.1:p.Ile33314Thr | |
| XM_017004822.1:c.96983T>C (TTN) | XP_016860311.1:p.Ile32328Thr | |
| XM_017004823.1:c.78599T>C (TTN) | XP_016860312.1:p.Ile26200Thr | |
| XM_024453094.1:c.100094T>C (TTN) | XP_024308862.1:p.Ile33365Thr | |
| XM_024453095.1:c.100091T>C (TTN) | XP_024308863.1:p.Ile33364Thr | |
| XM_024453096.1:c.99524T>C (TTN) | XP_024308864.1:p.Ile33175Thr | |
| XM_024453097.1:c.96866T>C (TTN) | XP_024308865.1:p.Ile32289Thr | |
| XM_024453098.1:c.96785T>C (TTN) | XP_024308866.1:p.Ile32262Thr | |
| XM_024453099.1:c.78548T>C (TTN) | XP_024308867.1:p.Ile26183Thr | |
| XM_024453100.1:c.68402T>C (TTN) | XP_024308868.1:p.Ile22801Thr |