Linked Data
ClinVar Variation Id:
178832
dbSNP Id:
rs727504476
ExAC:
2:179397342 A / G
gnomAD v2:
2-179397342-A-G
gnomAD v3:
2-178532615-A-G
gnomAD v4:
2-178532615-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532615A>G , CM000664.2:g.178532615A>G | GRCh38 |
| NC_000002.11:g.179397342A>G , CM000664.1:g.179397342A>G | GRCh37 |
| NC_000002.10:g.179105588A>G | NCBI36 |
| NG_011618.3:g.303188T>C , LRG_391:g.303188T>C | |
| NG_051363.1:g.14789A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96296T>C (TTN) | ENSP00000343764.6:p.Ile32099Thr | |
| ENST00000342175.11:c.77381T>C (TTN) | ENSP00000340554.6:p.Ile25794Thr | |
| ENST00000359218.10:c.77180T>C (TTN) | ENSP00000352154.5:p.Ile25727Thr | |
| ENST00000342175.10:c.77381T>C (TTN) | ENSP00000340554.6:p.Ile25794Thr | |
| ENST00000342992.10:c.96296T>C (TTN) | ENSP00000343764.6:p.Ile32099Thr | |
| ENST00000359218.9:c.77180T>C (TTN) | ENSP00000352154.5:p.Ile25727Thr | |
| ENST00000460472.6:c.76805T>C (TTN) | ENSP00000434586.1:p.Ile25602Thr | |
| ENST00000589042.5:c.104000T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile34667Thr | |
| ENST00000591111.5:c.99077T>C (TTN) | ENSP00000465570.1:p.Ile33026Thr | |
| ENST00000615779.4:c.99077T>C (TTN) | ENSP00000483597.1:p.Ile33026Thr | |
| NM_001256850.1:c.99077T>C (TTN) | NP_001243779.1:p.Ile33026Thr | |
| NM_001267550.2:c.104000T>C (TTN) MANE Select | NP_001254479.2:p.Ile34667Thr | |
| NM_003319.4:c.76805T>C (TTN) | NP_003310.4:p.Ile25602Thr | |
| NM_133378.4:c.96296T>C (TTN) | NP_596869.4:p.Ile32099Thr | |
| NM_133432.3:c.77180T>C (TTN) | NP_597676.3:p.Ile25727Thr | |
| NM_133437.4:c.77381T>C (TTN) | NP_597681.4:p.Ile25794Thr | |
| NR_038271.1:n.446+8979A>G (TTN-AS1) | ||
| NR_038272.1:n.220-3117A>G (TTN-AS1) | ||
| XM_011511729.1:c.103097T>C (TTN) | XP_011510031.1:p.Ile34366Thr | |
| XM_011511730.1:c.76991T>C (TTN) | XP_011510032.1:p.Ile25664Thr | |
| XM_011511731.1:c.76850T>C (TTN) | XP_011510033.1:p.Ile25617Thr | |
| XM_017004819.1:c.102893T>C (TTN) | XP_016860308.1:p.Ile34298Thr | |
| XM_017004820.1:c.98291T>C (TTN) | XP_016860309.1:p.Ile32764Thr | |
| XM_017004821.1:c.98288T>C (TTN) | XP_016860310.1:p.Ile32763Thr | |
| XM_017004822.1:c.95330T>C (TTN) | XP_016860311.1:p.Ile31777Thr | |
| XM_017004823.1:c.76946T>C (TTN) | XP_016860312.1:p.Ile25649Thr | |
| XM_024453094.1:c.98441T>C (TTN) | XP_024308862.1:p.Ile32814Thr | |
| XM_024453095.1:c.98438T>C (TTN) | XP_024308863.1:p.Ile32813Thr | |
| XM_024453096.1:c.97871T>C (TTN) | XP_024308864.1:p.Ile32624Thr | |
| XM_024453097.1:c.95213T>C (TTN) | XP_024308865.1:p.Ile31738Thr | |
| XM_024453098.1:c.95132T>C (TTN) | XP_024308866.1:p.Ile31711Thr | |
| XM_024453099.1:c.76895T>C (TTN) | XP_024308867.1:p.Ile25632Thr | |
| XM_024453100.1:c.66749T>C (TTN) | XP_024308868.1:p.Ile22250Thr |